ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5769C>T (p.Tyr1923=)

gnomAD frequency: 0.00003  dbSNP: rs751915461
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002118329 SCV002446532 likely benign Bethlem myopathy 1A 2023-05-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738541 SCV005354010 likely benign COL6A3-related disorder 2024-09-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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