ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248324 SCV000316362 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000005670 SCV000450252 benign Ellis-van Creveld syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000248324 SCV000603489 benign not specified 2018-07-12 criteria provided, single submitter clinical testing
Invitae RCV000527342 SCV000634715 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 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
Mendelics RCV000987404 SCV001136693 benign Curry-Hall syndrome 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000005670 SCV000025852 uncertain significance Ellis-van Creveld syndrome 2000-03-01 no assertion criteria provided literature only

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