ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2648C>T (p.Ala883Val)

gnomAD frequency: 0.00320  dbSNP: rs140951974
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951687 SCV001098112 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001148979 SCV001309902 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001573649 SCV001473878 likely benign not provided 2023-08-23 criteria provided, single submitter clinical testing
GeneDx RCV001573649 SCV001816652 likely benign not provided 2020-08-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32859249)
CeGaT Center for Human Genetics Tuebingen RCV001573649 SCV004147592 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing EVC2: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001573649 SCV005256657 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573649 SCV001799842 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573649 SCV001970676 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001796327 SCV002034022 benign not specified no assertion criteria provided clinical testing

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