ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.*4238del

dbSNP: rs776272545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000402720 SCV000476493 uncertain significance Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280131 SCV000476494 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2016-06-14 criteria provided, single submitter clinical testing

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