ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.1274G>A (p.Arg425His)

gnomAD frequency: 0.00003  dbSNP: rs773161640
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001309228 SCV001498722 likely benign Bethlem myopathy 1A 2022-08-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145547 SCV003832476 uncertain significance not provided 2022-08-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003145547 SCV005410159 uncertain significance not provided 2024-09-17 criteria provided, single submitter clinical testing

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