ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8265+19A>T

gnomAD frequency: 0.11270  dbSNP: rs9447445
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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 RCV000246788 SCV000310286 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001683043 SCV001902221 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Invitae RCV002058160 SCV002494409 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-02-01 criteria provided, single submitter clinical testing

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