ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5727C>T (p.Tyr1909=)

gnomAD frequency: 0.00173  dbSNP: rs146146364
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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 RCV000242544 SCV000310276 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000526629 SCV000656172 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001582857 SCV001810971 likely benign not provided 2021-08-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001582857 SCV004159760 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing COL12A1: BP4, BP7

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