ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2304G>C (p.Val768=) (rs139936564)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728033 SCV000855556 uncertain significance not provided 2017-07-20 criteria provided, single submitter clinical testing
GeneDx RCV000728033 SCV000972923 likely benign not provided 2018-06-06 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 RCV001082511 SCV001037850 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing

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