ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2711-15T>C

gnomAD frequency: 0.00071  dbSNP: rs74331327
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557418 SCV001779176 likely benign not provided 2018-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072098 SCV002405449 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2025-02-03 criteria provided, single submitter clinical testing

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