ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1626C>T (p.Asn542=) (rs139495331)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175305 SCV000226772 benign not specified 2014-09-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000175305 SCV000309646 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000175305 SCV000527430 likely benign not specified 2017-06-06 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.
Invitae RCV000548539 SCV000649610 benign not provided 2019-01-23 criteria provided, single submitter clinical testing

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