Submissions for variant NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)

gnomAD frequency: 0.00406  dbSNP: rs141287105

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173922	SCV000225100	benign	not specified	2015-02-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000680149	SCV000450093	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.
GeneDx	RCV001572957	SCV000516916	benign	not provided	2018-11-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32859249)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001572957	SCV000603504	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing
Invitae	RCV000755525	SCV000634693	benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000680149	SCV000807606	uncertain significance	Ellis-van Creveld syndrome	2017-09-01	criteria provided, single submitter	clinical testing	This mutation was found once in our laboratory in trans with another variant in a 3-year-old male with ectodermal dysplasia. Heterozygotes would be expected to be asymptomatic carriers.
CeGaT Center for Human Genetics Tuebingen	RCV001572957	SCV004147600	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	EVC2: BS2
PreventionGenetics, part of Exact Sciences	RCV003965251	SCV004778663	likely benign	EVC2-related condition	2020-11-09	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572957	SCV001798113	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572957	SCV001964088	likely benign	not provided		no assertion criteria provided	clinical testing