Submissions for variant NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg)

gnomAD frequency: 0.00019  dbSNP: rs187751757

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000267205	SCV000474527	likely benign	Hypogonadotropic hypogonadism 5 with or without anosmia	2018-01-12	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.
GeneDx	RCV001753840	SCV000727577	benign	not provided	2021-09-07	criteria provided, single submitter	clinical testing
Invitae	RCV000359572	SCV000755771	likely benign	CHARGE association	2024-01-28	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000359572	SCV000781114	likely benign	CHARGE association	2016-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317863	SCV000849891	likely benign	Inborn genetic diseases	2017-06-12	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.
PreventionGenetics, part of Exact Sciences	RCV003972534	SCV004788331	likely benign	CHD7-related condition	2021-09-28	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).