ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe)

dbSNP: rs200315815
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538608 SCV000656133 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001584350 SCV001812656 likely benign not provided 2020-06-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001584350 SCV002542207 uncertain significance not provided 2021-08-12 criteria provided, single submitter clinical testing

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