ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.384C>T (p.Thr128=)

gnomAD frequency: 0.00005  dbSNP: rs200378966
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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 RCV000872736 SCV001014599 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001585837 SCV001812259 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000872736 SCV002813710 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-05-17 criteria provided, single submitter clinical testing

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