ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1577-1635C>G (rs76402294)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080238 SCV000112133 benign not specified 2015-04-24 criteria provided, single submitter clinical testing
GeneDx RCV000080238 SCV000519405 benign not specified 2016-03-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000294385 SCV000431728 likely benign Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349377 SCV000431729 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000080238 SCV000309645 benign not specified criteria provided, single submitter clinical testing

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