ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2007G>A (p.Ala669=)

gnomAD frequency: 0.01425  dbSNP: rs77790445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242187 SCV000310259 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000548976 SCV000656134 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001660250 SCV001881785 benign not provided 2019-08-15 criteria provided, single submitter clinical testing

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