ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.648-1243G>T (rs1554754182)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763612 SCV000894463 likely pathogenic 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
Integrated Genetics/Laboratory Corporation of America RCV000587372 SCV000698718 likely pathogenic Fukuyama congenital muscular dystrophy 2016-01-26 criteria provided, single submitter clinical testing

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