Submissions for variant NM_017780.4(CHD7):c.2831G>A (p.Arg944His)

gnomAD frequency: 0.00030  dbSNP: rs117506164

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000231264	SCV000290340	benign	CHARGE association	2023-11-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001722263	SCV000329258	benign	not provided	2019-07-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22539353)
Illumina Laboratory Services, Illumina	RCV000275169	SCV000474424	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genetic Services Laboratory, University of Chicago	RCV000278975	SCV000594103	benign	not specified	2016-10-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317770	SCV000849673	likely benign	Inborn genetic diseases	2018-07-19	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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000231264	SCV001369672	benign	CHARGE association	2018-09-27	criteria provided, single submitter	clinical testing	This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
PreventionGenetics, part of Exact Sciences	RCV003967659	SCV004782873	benign	CHD7-related condition	2022-02-01	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).