ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1371G>A (p.Ala457=) (rs140667960)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593047 SCV000704350 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000593047 SCV000984079 likely benign not provided 2018-04-19 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.

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