Submissions for variant NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp)

gnomAD frequency: 0.00049  dbSNP: rs139646715

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703750	SCV000523092	benign	not provided	2020-09-23	criteria provided, single submitter	clinical testing
Invitae	RCV000528289	SCV000654346	likely benign	Developmental and epileptic encephalopathy 94	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002318421	SCV000850886	likely benign	Inborn genetic diseases	2017-12-27	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.
Revvity Omics, Revvity	RCV000528289	SCV003831916	uncertain significance	Developmental and epileptic encephalopathy 94	2019-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001703750	SCV004130951	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	CHD2: BS2
PreventionGenetics, part of Exact Sciences	RCV003959906	SCV004773977	likely benign	CHD2-related condition	2021-07-13	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).