ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8650-19T>A

gnomAD frequency: 0.01255  dbSNP: rs79461746
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253553 SCV000310290 benign not specified criteria provided, single submitter clinical testing
Invitae RCV002058161 SCV002466212 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-31 criteria provided, single submitter clinical testing

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