ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1493+2dup

dbSNP: rs753885022
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144459 SCV003831339 uncertain significance not provided 2022-09-02 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000656701 SCV000747733 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-12-18 no assertion criteria provided clinical testing The observed variant c.1397+2dupT is not reported in 1000 Genomes and its minor allele frequency is <0.01% in ExAC databases. The in silico predictions of the variant is disease causing by MutationTaster2.

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