ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.9130G>A (p.Val3044Ile)

gnomAD frequency: 0.00004  dbSNP: rs374628435
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000356914 SCV000336339 uncertain significance not provided 2015-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001242146 SCV001415214 likely benign Bethlem myopathy 1A 2023-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165732 SCV003872943 likely benign Inborn genetic diseases 2023-02-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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