ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2157C>T (p.Thr719=)

gnomAD frequency: 0.00004  dbSNP: rs776302292
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000916670 SCV001061916 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-08-13 criteria provided, single submitter clinical testing
GeneDx RCV001593129 SCV001816644 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing

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