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Joubert syndrome

TMEM67 · rs2536929338

Where this position leads

Condition: Joubert Syndrome

rs2536929338 Condition: Joubert Syndrome Joubert Syndrome Condition rs2536929338 rs2536929338 TMEM67

Strength of the evidence

2 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 1 of 4 stars.

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 Likely pathogenic for Joubert syndrome, Meckel-Gruber syndrome; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-03-19. ClinVar record 2945489 NM_153704.6(TMEM67):c.2327C>T (p.Ser776Leu)

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

C/C No copy of the version ClinVar lists as likely disease-causing for Joubert syndrome. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV002945489, criteria provided, single submitter)
C/T One copy of the version ClinVar lists as likely disease-causing for Joubert 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 VCV002945489, criteria provided, single submitter)
T/T Two copies of the version ClinVar lists as likely disease-causing for Joubert 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 VCV002945489, criteria provided, single submitter)

Source: ClinVar VCV002945489, criteria provided, single submitter

Questions about rs2536929338

What is rs2536929338?

rs2536929338 is a single position in the genome, in or near the TMEM67 gene. Published research associates it with joubert syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2536929338 linked to?

On MyGeneLog this position is linked to Joubert Syndrome. The research behind each link, and its sources, are set out on that condition page.

Does having rs2536929338 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 rs2536929338 come from?

ClinVar VCV002945489, 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

Joubert syndrome (rs2536929338). MyGeneLog™. https://www.mygenelog.com/variants/rs2536929338

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