Submissions for variant NM_017780.4(CHD7):c.6282A>G (p.Gly2094=)

gnomAD frequency: 0.00354  dbSNP: rs41312172

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081849	SCV000113784	benign	not specified	2015-02-11	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081849	SCV000192789	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081849	SCV000312991	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000306969	SCV000474476	likely benign	Hypogonadotropic hypogonadism 5 with or without anosmia	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000347837	SCV000562422	benign	CHARGE syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000081849	SCV000612720	benign	not specified	2017-05-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311671	SCV000846965	likely benign	Inborn genetic diseases	2015-09-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000081849	SCV000967058	benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Gly2094Gly 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 0.65% (432/66718) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs41312172).
GeneDx	RCV001536601	SCV001753381	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001536601	SCV002545621	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	CHD7: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002483146	SCV002798825	likely benign	CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia	2021-07-26	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000081849	SCV001918348	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081849	SCV001956887	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001536601	SCV001964543	likely benign	not provided		no assertion criteria provided	clinical testing