ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met)

gnomAD frequency: 0.00054  dbSNP: rs141593495
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534733 SCV000656190 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509277 SCV001715896 uncertain significance not provided 2019-07-28 criteria provided, single submitter clinical testing
GeneDx RCV001509277 SCV001758034 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001509277 SCV004699750 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing

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