ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2481G>A (p.Thr827=)

gnomAD frequency: 0.00506  dbSNP: rs35170847
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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 RCV000242737 SCV000310262 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000552611 SCV000656137 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001668500 SCV001890319 benign not provided 2021-05-20 criteria provided, single submitter clinical testing

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