ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.1710G>A (p.Gly570=)

gnomAD frequency: 0.00004  dbSNP: rs377210303
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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 RCV000888480 SCV001032116 likely benign Bethlem myopathy 1A 2024-06-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735868 SCV005353484 likely benign COL6A2-related disorder 2024-05-25 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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