Submissions for variant NM_001170629.2(CHD8):c.6232C>T (p.Leu2078=)

gnomAD frequency: 0.00028  dbSNP: rs188900504

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177527	SCV000229410	benign	not specified	2015-04-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362906	SCV002656380	benign	Inborn genetic diseases	2018-11-24	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	RCV002517712	SCV003493642	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004552996	SCV004761221	likely benign	CHD8-related disorder	2023-12-18	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).