Sensitive

Kabuki syndrome

KMT2D · rs398123717

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 Benign/Likely benign for Kabuki syndrome, Familial cancer of breast; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2025-12-21. ClinVar record 1260019 NM_003482.4(KMT2D):c.13587C>T (p.Ser4529=)

Classification Conflicting classifications of pathogenicity for Kabuki syndrome; criteria provided, conflicting classifications (1 of 4 stars, 2 submitters), last evaluated 2023-01-24. ClinVar record 94166 NM_003482.4(KMT2D):c.13587C>A (p.Ser4529Arg)

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

G/G No copy of the version labs disagree about for Kabuki syndrome: in ClinVar, some labs call it disease-causing and others do not. This is the usual result. (ClinVar VCV000094166, criteria provided, conflicting classifications)

G/T One copy of the version labs disagree about for Kabuki syndrome: in ClinVar, some labs call it disease-causing and others do not, so what one copy means is not settled. A genetic counsellor can look at the separate records. (ClinVar VCV000094166, criteria provided, conflicting classifications)

T/T Two copies of the version labs disagree about for Kabuki syndrome: in ClinVar, some labs call it disease-causing and others do not. 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. (ClinVar VCV000094166, criteria provided, conflicting classifications)

Source: ClinVar VCV000094166, criteria provided, conflicting classifications

Questions about rs398123717

What is rs398123717?

rs398123717 is a single position in the genome, in or near the KMT2D gene. Published research associates it with kabuki syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs398123717 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 rs398123717 come from?

ClinVar VCV000094166, criteria provided, conflicting classifications. 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

Kabuki syndrome (rs398123717). MyGeneLog™. https://www.mygenelog.com/variants/rs398123717

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