ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.18C>T (p.Ser6=) (rs556910528)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173575 SCV000224699 uncertain significance not provided 2015-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000173575 SCV000984243 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.
Invitae RCV001080231 SCV001097243 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000737 SCV001157784 benign not specified 2018-08-14 criteria provided, single submitter clinical testing

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