ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser)

gnomAD frequency: 0.00203  dbSNP: rs145277501
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000391787 SCV000332630 likely benign not specified 2018-06-02 criteria provided, single submitter clinical testing
Invitae RCV000878363 SCV001021259 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001555809 SCV001157301 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001155559 SCV001316996 likely 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001555809 SCV001777279 likely benign not provided 2020-08-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25047945)
PreventionGenetics, part of Exact Sciences RCV003955433 SCV004766643 likely benign EVC2-related disorder 2021-01-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001555809 SCV001799400 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000391787 SCV001932808 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001555809 SCV001973184 likely benign not provided no assertion criteria provided clinical testing

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