ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1500G>A (p.Met500Ile) (rs149898884)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673759 SCV000798997 uncertain significance Chondroectodermal dysplasia 2018-04-02 criteria provided, single submitter clinical testing
Dan Cohn Lab,University Of California Los Angeles RCV000515880 SCV000612077 pathogenic Ellis-van Creveld Syndrome 2017-06-01 no assertion criteria provided research
GeneDx RCV000603958 SCV000726840 likely benign not specified 2018-01-15 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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