ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.*42del

dbSNP: rs749100291
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000369071 SCV000476435 uncertain significance Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000395691 SCV000476436 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2016-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000395691 SCV001787042 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563972 SCV001787043 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563973 SCV001787044 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2M 2021-07-14 criteria provided, single submitter clinical testing

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