Submissions for variant NM_017780.4(CHD7):c.6276G>A (p.Glu2092=)

gnomAD frequency: 0.12528  dbSNP: rs2068096

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081848	SCV000113783	benign	not specified	2015-08-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081848	SCV000192788	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081848	SCV000312990	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000351247	SCV000474474	benign	Hypogonadotropic hypogonadism 5 with or without anosmia	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000081848	SCV000603084	benign	not specified	2018-08-24	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000081848	SCV000731863	benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Glu2092Glu in exon 31 of CHD7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 30.76% (3016/9804) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs2068096).
Athena Diagnostics Inc	RCV000711196	SCV000841527	benign	not provided	2018-07-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311670	SCV000846405	benign	Inborn genetic diseases	2016-03-16	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV000405798	SCV001000582	benign	CHARGE association	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000711196	SCV001883388	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000081848	SCV001919075	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081848	SCV001957481	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000081848	SCV001970205	benign	not specified		no assertion criteria provided	clinical testing