Submissions for variant NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly)

gnomAD frequency: 0.00082  dbSNP: rs148494847

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177526	SCV000229409	benign	not specified	2015-04-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312725	SCV000846700	benign	Inborn genetic diseases	2016-05-06	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000871732	SCV001013439	benign	not provided	2024-11-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000871732	SCV001766054	likely benign	not provided	2020-12-04	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492775	SCV002802455	likely benign	Intellectual developmental disorder with autism and macrocephaly	2022-02-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004552995	SCV004777106	benign	CHD8-related disorder	2022-05-06	no assertion criteria provided	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).