ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3372G>A (p.Thr1124=)

dbSNP: rs749287034
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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 RCV001372884 SCV001569577 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-10-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692667 SCV005189123 uncertain significance not provided criteria provided, single submitter not provided

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