ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) (rs41269557)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724535 SCV000225940 uncertain significance not provided 2015-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000174617 SCV000518606 likely benign not specified 2016-08-25 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.
Genetic Services Laboratory, University of Chicago RCV000174617 SCV000594607 uncertain significance not specified 2017-04-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268280 SCV000450285 likely benign Ellis-van Creveld Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323324 SCV000450286 likely benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000525743 SCV000634718 likely benign Chondroectodermal dysplasia; Curry-Hall syndrome 2017-08-30 criteria provided, single submitter clinical testing

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