ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1127C>T (p.Ala376Val)

gnomAD frequency: 0.00309  dbSNP: rs142535134
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180707 SCV000233187 benign not specified 2014-05-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000180707 SCV000316361 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000318248 SCV000450243 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.
GeneDx RCV000842238 SCV000984242 likely benign not provided 2021-03-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24863959)
Invitae RCV001080726 SCV001021632 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000842238 SCV001472565 likely benign not provided 2020-07-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000318248 SCV001456823 likely benign Ellis-van Creveld syndrome 2020-09-16 no assertion criteria provided clinical testing

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