ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1188A>C (p.Ala396=)

gnomAD frequency: 0.00034  dbSNP: rs202153313
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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 RCV000244844 SCV000310254 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000877823 SCV001020614 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001589260 SCV001824123 likely benign not provided 2020-09-24 criteria provided, single submitter clinical testing

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