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Sensitive

MYO15A-related disorder

MYO15A · rs768607209

Strength of the evidence

3 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 2 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 Pathogenic/Likely pathogenic for MYO15A-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2025-12-29. ClinVar record 2765294 NM_016239.4(MYO15A):c.7582A>T (p.Lys2528Ter)

Classification Conflicting classifications of pathogenicity for Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases; criteria provided, conflicting classifications (1 of 4 stars, 3 submitters), last evaluated 2024-07-17. ClinVar record 891680 NM_016239.4(MYO15A):c.7582A>G (p.Lys2528Glu)

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.

How common each version is

AG
Japanese ToMMo
A 100.0%
World gnomAD
A 100.0%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study. No Korean figure for this position yet.

What each result means

A/A No copy of the version ClinVar lists as disease-causing or likely disease-causing for MYO15A-related disorder. This is the usual result. (ClinVar VCV002765294, criteria provided, multiple submitters, no conflicts)
A/T One copy of the version ClinVar lists as disease-causing or likely disease-causing for MYO15A-related disorder. 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. (ClinVar VCV002765294, criteria provided, multiple submitters, no conflicts)
T/T Two copies of the version ClinVar lists as disease-causing or likely disease-causing for MYO15A-related disorder. 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 VCV002765294, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV002765294, criteria provided, multiple submitters, no conflicts

Quoting this page

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MYO15A-related disorder (rs768607209). MyGeneLog™. https://www.mygenelog.com/variants/rs768607209

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