ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2772T>C (p.Tyr924=)

gnomAD frequency: 0.02487  dbSNP: rs35429515
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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 RCV000247534 SCV000310263 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000530054 SCV000656141 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001597010 SCV001832021 benign not provided 2018-07-05 criteria provided, single submitter clinical testing

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