ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.225G>A (p.Thr75=) (rs200957354)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711551 SCV000841930 benign not provided 2017-12-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711551 SCV000705724 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000591502 SCV000727774 likely benign not specified 2018-02-26 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 RCV000406068 SCV000431670 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305839 SCV000431671 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing

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