ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs)

dbSNP: rs1554766898
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674450 SCV000799788 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2018-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001362860 SCV001558908 pathogenic Walker-Warburg congenital muscular dystrophy 2021-08-31 criteria provided, single submitter clinical testing

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