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Beckwith-Wiedemann syndrome

CDKN1C · rs1564930723

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What ClinVar records

Classification Uncertain significance for Beckwith-Wiedemann syndrome; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2022-05-27. ClinVar record 1920342 NM_001122630.2(CDKN1C):c.85G>A (p.Glu29Lys)

Classification Pathogenic for Beckwith-Wiedemann syndrome; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2019-06-17. ClinVar record 948503 NM_001122630.2(CDKN1C):c.85G>T (p.Glu29Ter)

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A Two copies of the version ClinVar lists as disease-causing for Beckwith-Wiedemann syndrome. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. So far only one lab has made this call, so it may change. (ClinVar VCV000948503, criteria provided, single submitter)
A/C One copy of the version ClinVar lists as disease-causing for Beckwith-Wiedemann syndrome. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. So far only one lab has made this call, so it may change. (ClinVar VCV000948503, criteria provided, single submitter)
C/C No copy of the version ClinVar lists as disease-causing for Beckwith-Wiedemann syndrome. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000948503, criteria provided, single submitter)

Source: ClinVar VCV000948503, criteria provided, single submitter

Questions about rs1564930723

What is rs1564930723?

rs1564930723 is a single position in the genome, in or near the CDKN1C gene. Published research associates it with beckwith-wiedemann syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs1564930723 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs1564930723 come from?

ClinVar VCV000948503, criteria provided, single submitter. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Beckwith-Wiedemann syndrome (rs1564930723). MyGeneLog™. https://www.mygenelog.com/variants/rs1564930723

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