ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7008C>T (p.Asp2336=)

gnomAD frequency: 0.00017  dbSNP: rs377413592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875883 SCV001018364 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV002285425 SCV002576186 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV000875883 SCV002798444 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-08-24 criteria provided, single submitter clinical testing

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