ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr)

gnomAD frequency: 0.02433  dbSNP: rs75535959
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532798 SCV000656181 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001692201 SCV001907235 benign not provided 2018-09-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000532798 SCV002810240 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-08-24 criteria provided, single submitter clinical testing

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