ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2437+13T>C

gnomAD frequency: 0.00002  dbSNP: rs545025813
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001541399 SCV001759393 likely benign not provided 2019-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071959 SCV002433887 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2025-01-11 criteria provided, single submitter clinical testing

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