Submissions for variant NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)

gnomAD frequency: 0.00019  dbSNP: rs553367989

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000289922	SCV000336701	uncertain significance	not provided	2015-10-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317809	SCV000850754	likely benign	Inborn genetic diseases	2019-05-06	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.
Baylor Genetics	RCV001330440	SCV001522120	uncertain significance	Intellectual developmental disorder with autism and macrocephaly	2019-09-06	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV000289922	SCV001939447	benign	not provided	2020-09-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000289922	SCV003291349	likely benign	not provided	2023-12-19	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001330440	SCV003831989	uncertain significance	Intellectual developmental disorder with autism and macrocephaly	2019-02-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000289922	SCV004129015	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CHD8: BS2
PreventionGenetics, part of Exact Sciences	RCV004547687	SCV004751081	likely benign	CHD8-related disorder	2022-02-09	no assertion criteria provided	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).