ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4001-10G>A

gnomAD frequency: 0.02617  dbSNP: rs73749974
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249649 SCV000310266 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000535419 SCV000656153 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001610644 SCV001832889 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000535419 SCV002798911 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-08-06 criteria provided, single submitter clinical testing

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