ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.1228C>A (p.His410Asn) (rs146272618)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000380549 SCV000335575 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000766041 SCV000897480 uncertain significance Dilated cardiomyopathy 1X; Fukuyama congenital muscular dystrophy; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 2018-10-31 criteria provided, single submitter clinical testing

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