ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.969T>C (p.Asn323=) (rs4688963)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000253613 SCV000516340 benign not specified 2016-03-03 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 RCV000294312 SCV000450228 benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349207 SCV000450229 benign Ellis-van Creveld Syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000253613 SCV000316389 benign not specified criteria provided, single submitter clinical testing

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