ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.74-19T>C

gnomAD frequency: 0.00001  dbSNP: rs564822630
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002161060 SCV002478184 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002161060 SCV002795239 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-02-24 criteria provided, single submitter clinical testing

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