Submissions for variant NM_147127.5(EVC2):c.1452G>A (p.Leu484=)

gnomAD frequency: 0.00046  dbSNP: rs137884710

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000951680	SCV001098103	likely 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	RCV001001892	SCV001159635	likely benign	not specified	2019-05-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001155560	SCV001316997	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV001565167	SCV001788461	likely benign	not provided	2021-10-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001565167	SCV004147599	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	EVC2: BP4, BP7