Submissions for variant NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys)

gnomAD frequency: 0.00245  dbSNP: rs78640816

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000399850	SCV000338538	likely benign	not specified	2016-01-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317814	SCV000850859	likely benign	Inborn genetic diseases	2018-07-24	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.
Invitae	RCV000872901	SCV001014792	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000872901	SCV001752235	benign	not provided	2019-08-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000872901	SCV004129019	benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	CHD8: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003982989	SCV004796606	benign	CHD8-related condition	2019-05-08	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).