ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8970T>C (p.Gly2990=)

gnomAD frequency: 0.00173  dbSNP: rs190501064
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652939 SCV000774811 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001559365 SCV001781579 likely benign not provided 2021-03-23 criteria provided, single submitter clinical testing

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