ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.780G>A (p.Lys260=)

gnomAD frequency: 0.00676  dbSNP: rs41269555
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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) RCV000179559 SCV000231821 benign not specified 2014-10-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000179559 SCV000316384 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001081202 SCV000634729 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000834423 SCV000976192 benign not provided 2018-05-31 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000834423 SCV001158807 benign not provided 2023-10-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001153480 SCV001314773 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.
Natera, Inc. RCV001153480 SCV001454793 benign Ellis-van Creveld syndrome 2020-09-16 no assertion criteria provided clinical testing

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