ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2850C>T (p.Gly950=)

gnomAD frequency: 0.00015  dbSNP: rs751192681
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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) RCV000176866 SCV000228623 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089400 SCV000657180 likely benign Bethlem myopathy 1A 2025-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537415 SCV004732903 likely benign COL6A2-related disorder 2022-07-28 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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