Submissions for variant NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)

gnomAD frequency: 0.07232  dbSNP: rs35953626

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248324	SCV000316362	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000005670	SCV000450252	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000248324	SCV000517136	benign	not specified	2016-05-16	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	RCV001573446	SCV000603489	benign	not provided	2023-10-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000527342	SCV000634715	benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000248324	SCV000703547	benign	not specified	2017-01-11	criteria provided, single submitter	clinical testing
Mendelics	RCV000987404	SCV001136693	benign	Curry-Hall syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000005670	SCV001737235	benign	Ellis-van Creveld syndrome	2021-05-18	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001573446	SCV005297761	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000005670	SCV000025852	uncertain significance	Ellis-van Creveld syndrome	2000-03-01	no assertion criteria provided	literature only
Natera, Inc.	RCV000005670	SCV001452192	benign	Ellis-van Creveld syndrome	2019-09-12	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000248324	SCV001742150	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573446	SCV001799350	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000248324	SCV001928880	benign	not specified		no assertion criteria provided	clinical testing