ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2245G>A (p.Asp749Asn)

gnomAD frequency: 0.00006  dbSNP: rs372913372
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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 RCV001360256 SCV001556167 benign Bethlem myopathy 1A 2022-10-18 criteria provided, single submitter clinical testing

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