ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.743T>C (p.Ile248Thr)

dbSNP: rs2132900809
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002031320 SCV002314624 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-08-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004793715 SCV005410778 uncertain significance not provided 2024-09-16 criteria provided, single submitter clinical testing PM2

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