Submissions for variant NM_017780.4(CHD7):c.5051-4C>T

gnomAD frequency: 0.00577  dbSNP: rs71640288

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081838	SCV000113773	benign	not specified	2013-08-27	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000081838	SCV000258121	benign	not specified	2015-05-11	criteria provided, single submitter	clinical testing
Invitae	RCV000204649	SCV000259764	benign	CHARGE association	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081838	SCV000312978	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000270371	SCV000474444	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.
Genetic Services Laboratory, University of Chicago	RCV000081838	SCV000594099	benign	not specified	2017-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311667	SCV000846951	benign	Inborn genetic diseases	2016-05-16	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000081838	SCV000967057	benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	c.5051-4C>T in intron 22 of CHD7: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.80% (523/65760) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs71640288).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000081838	SCV001157564	benign	not specified	2019-05-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001573056	SCV001873493	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29419413)
CeGaT Center for Human Genetics Tuebingen	RCV001573056	SCV002564003	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	CHD7: BP4, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002490719	SCV002800238	benign	CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia	2021-07-08	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573056	SCV001798364	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000081838	SCV001920477	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081838	SCV001952590	benign	not specified		no assertion criteria provided	clinical testing