ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2373G>A (p.Gln791=)

gnomAD frequency: 0.01161  dbSNP: rs73795089
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000367860 SCV000450321 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.
Invitae RCV000526645 SCV000634721 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 RCV001540332 SCV001473694 benign not provided 2021-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001540332 SCV001758205 benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000367860 SCV001456837 benign Ellis-van Creveld syndrome 2020-09-16 no assertion criteria provided clinical testing

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