ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) (rs35953626)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000248324 SCV000603489 benign not specified 2015-08-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000248324 SCV000703547 benign not specified 2017-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000248324 SCV000517136 benign not specified 2016-05-16 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 RCV000340475 SCV000450252 benign Ellis-van Creveld Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000527342 SCV000634715 benign Chondroectodermal dysplasia; Curry-Hall syndrome 2017-08-07 criteria provided, single submitter clinical testing
OMIM RCV000005670 SCV000025852 uncertain significance Chondroectodermal dysplasia 2000-03-01 no assertion criteria provided literature only
PreventionGenetics RCV000248324 SCV000316362 benign not specified criteria provided, single submitter clinical testing

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