ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8980T>C (p.Ser2994Pro)

gnomAD frequency: 0.01603  dbSNP: rs34846477
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244132 SCV000310291 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000536092 SCV000656210 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001668502 SCV001889776 benign not provided 2018-07-09 criteria provided, single submitter clinical testing

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