ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.3414C>T (p.Val1138=)

gnomAD frequency: 0.00001  dbSNP: rs1022815311
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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 RCV001418423 SCV001620651 likely benign Bethlem myopathy 1A 2022-11-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550138 SCV004777732 likely benign COL6A3-related disorder 2020-05-20 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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