ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4245T>C (p.Tyr1415=)

gnomAD frequency: 0.00420  dbSNP: rs34830422
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252790 SCV000310267 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000538889 SCV000656156 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2025-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001589261 SCV001826377 likely benign not provided 2020-06-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001589261 SCV002821756 benign not provided 2022-12-01 criteria provided, single submitter clinical testing COL12A1: BP4, BP7, BS1, BS2

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