ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1127C>T (p.Ala376Val) (rs142535134)

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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 RCV000180707 SCV000233187 benign not specified 2014-05-27 criteria provided, single submitter clinical testing
GeneDx RCV000842238 SCV000984242 likely benign not provided 2018-04-11 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 RCV000263040 SCV000450242 likely benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318248 SCV000450243 likely benign Ellis-van Creveld Syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000180707 SCV000316361 likely benign not specified criteria provided, single submitter clinical testing

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