ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=)

gnomAD frequency: 0.00026  dbSNP: rs200570792
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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 RCV000652953 SCV000774825 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001592829 SCV001815109 likely benign not provided 2021-10-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000652953 SCV002805821 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-12-13 criteria provided, single submitter clinical testing

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