ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)

gnomAD frequency: 0.01416  dbSNP: rs2279252
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245719 SCV000316370 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000245719 SCV000341600 benign not specified 2016-05-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332723 SCV000450309 benign Ellis-van Creveld syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000245719 SCV000518575 benign not specified 2016-08-04 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 RCV000540703 SCV000634719 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-02-01 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573958 SCV001800579 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000245719 SCV001927945 benign not specified no assertion criteria provided clinical testing

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