ClinVar Miner

Submissions for variant NM_003494.4(DYSF):c.[1670T>C];[4701C>G]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000501932 SCV000590912 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-07-19 no assertion criteria provided clinical testing The Y1567T variant is not reported in either 1000 Genomes or ExAC databases. The in silico prediction of the variant is damaging by LRT and Mutation Taster2. The L574P variant has a minor allele frequency of 0.02% and 0.002% in 1000 genomes and ExAC database respectively. The in silico prediction of the variant is damaging by SIFT and MutationTaster2.

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