ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1093G>A (p.Gly365Arg)

gnomAD frequency: 0.00001  dbSNP: rs778069171
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001422002 SCV001624536 likely benign Bethlem myopathy 1A 2023-11-15 criteria provided, single submitter clinical testing

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