ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2412C>T (p.Val804=)

gnomAD frequency: 0.00001  dbSNP: rs909940106
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001484188 SCV001688600 likely benign Bethlem myopathy 1A 2022-07-26 criteria provided, single submitter clinical testing

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