ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4691-12G>A

gnomAD frequency: 0.00243  dbSNP: rs146472530
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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 RCV000253331 SCV000310270 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001560107 SCV001782448 likely benign not provided 2020-06-08 criteria provided, single submitter clinical testing
Invitae RCV002058158 SCV002482349 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-29 criteria provided, single submitter clinical testing

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