ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2505G>A (p.Ser835=) (rs115976359)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246693 SCV000316376 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395037 SCV000450333 likely benign Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279965 SCV000450334 likely benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000246693 SCV000527275 benign not specified 2016-11-07 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 RCV000541385 SCV000634722 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2017-02-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000246693 SCV001159021 benign not specified 2018-07-10 criteria provided, single submitter clinical testing

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