ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2151C>T (p.His717=)

gnomAD frequency: 0.00220  dbSNP: rs144584049
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000242672 SCV000226179 likely benign not specified 2016-06-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000242672 SCV000316126 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000242672 SCV000729112 benign not specified 2017-08-09 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001084378 SCV000758485 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 RCV001812152 SCV000885380 benign not provided 2023-09-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001155337 SCV001316761 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV001812152 SCV004147594 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing EVC2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001812152 SCV005256661 likely benign not provided criteria provided, single submitter not provided

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