ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.*3432dup

dbSNP: rs879020291
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000272137 SCV000476485 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327081 SCV000476486 uncertain significance Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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