ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5525-132A>G

gnomAD frequency: 0.71264  dbSNP: rs1332778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001613526 SCV001834256 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Invitae RCV002070479 SCV002488199 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-02-01 criteria provided, single submitter clinical testing

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