Submissions for variant NM_153717.3(EVC):c.934G>A (p.Asp312Asn)

gnomAD frequency: 0.00171  dbSNP: rs115275195

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000327158	SCV000450220	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000507948	SCV000603494	uncertain significance	not specified	2017-01-23	criteria provided, single submitter	clinical testing
Invitae	RCV000945501	SCV001091523	benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001796743	SCV004147610	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	EVC: BP4
PreventionGenetics, part of Exact Sciences	RCV003902349	SCV004726785	likely benign	EVC-related condition	2022-05-06	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc.	RCV000327158	SCV001462224	uncertain significance	Ellis-van Creveld syndrome	2020-01-02	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000507948	SCV002034309	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001796743	SCV002038202	likely benign	not provided		no assertion criteria provided	clinical testing