ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7786A>G (p.Ile2596Val)

gnomAD frequency: 0.05341  dbSNP: rs35710072
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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 RCV000247894 SCV000310283 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000548640 SCV000656194 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001668501 SCV001891958 benign not provided 2018-07-09 criteria provided, single submitter clinical testing

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