ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.969T>C (p.Asn323=)

gnomAD frequency: 0.40746  dbSNP: rs4688963
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253613 SCV000316389 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349207 SCV000450229 benign Ellis-van Creveld syndrome 2018-01-13 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 RCV000253613 SCV000516340 benign not specified 2016-03-03 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 RCV001515069 SCV001723058 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000349207 SCV001738625 benign Ellis-van Creveld syndrome 2021-06-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001706403 SCV001876190 benign Curry-Hall syndrome 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000349207 SCV001876204 benign Ellis-van Creveld syndrome 2021-07-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000253613 SCV001739783 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000253613 SCV001956928 benign not specified no assertion criteria provided clinical testing

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