Submissions for variant NM_017780.4(CHD7):c.1419G>C (p.Gly473=)

gnomAD frequency: 0.00144  dbSNP: rs186394299

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081819	SCV000113754	benign	not specified	2013-08-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081819	SCV000312946	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000373805	SCV000474389	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000340199	SCV000562415	benign	CHARGE syndrome	2025-01-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081819	SCV000594098	likely benign	not specified	2016-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311661	SCV000846645	likely benign	Inborn genetic diseases	2016-05-11	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	RCV000081819	SCV001365816	likely benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Gly473Gly in exon 2 of CHD7: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.28% (174/62782) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs186394299).
GeneDx	RCV001534229	SCV001751134	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490717	SCV002799808	likely benign	CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia	2021-08-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001534229	SCV004155845	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	CHD7: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV001534229	SCV005223605	likely benign	not provided		criteria provided, single submitter	not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081819	SCV001953315	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001534229	SCV001969574	likely benign	not provided		no assertion criteria provided	clinical testing