Submissions for variant NM_017780.4(CHD7):c.6660T>G (p.Gly2220=)

gnomAD frequency: 0.00100  dbSNP: rs34527521

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000248912	SCV000113787	likely benign	not specified	2015-10-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000248912	SCV000312994	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000470470	SCV000562409	benign	CHARGE association	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311673	SCV000846691	likely benign	Inborn genetic diseases	2016-05-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Illumina Laboratory Services, Illumina	RCV001164555	SCV001326688	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000248912	SCV001365821	likely benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Gly2220Gly in exon 31 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 0.20% (127/63678) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs34527521).
GeneDx	RCV001705769	SCV001830132	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483147	SCV002797477	likely benign	CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia	2021-10-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705769	SCV004155867	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	CHD7: BP4, BP7, BS1
Clinical Genetics, Academic Medical Center	RCV000248912	SCV001921163	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001705769	SCV001953499	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001705769	SCV001970326	likely benign	not provided		no assertion criteria provided	clinical testing