ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1311G>A (p.Lys437=)

gnomAD frequency: 0.00001  dbSNP: rs904253784
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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 RCV001470732 SCV001674831 likely benign Walker-Warburg congenital muscular dystrophy 2022-08-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506542 SCV002805866 likely benign Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2021-08-12 criteria provided, single submitter clinical testing

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