ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) (rs200916654)

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Total submissions: 2
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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 RCV000656079 SCV000747738 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-07-19 no assertion criteria provided clinical testing The observed variant c.1721T>C (p.Leu574Pro) is reported in 1000 Genomes and ExAC databases with a minor allele frequency of 0.0002 and 0.00002162 respectively. The in silico prediction of the variant is disease causing by MutationTaster2 and damaging by SIFT.
Department of Neurology, Guangzhou First People’s Hospital,School of Medicine, South China University of Technology RCV001089586 SCV001244905 pathogenic not provided 2019-07-01 no assertion criteria provided reference population

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