Submissions for variant NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln)

gnomAD frequency: 0.00011  dbSNP: rs201628571

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000238777	SCV000297087	uncertain significance	not specified	2015-08-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001705318	SCV000512576	benign	not provided	2020-01-15	criteria provided, single submitter	clinical testing
Invitae	RCV000469639	SCV000553255	likely benign	Developmental and epileptic encephalopathy 94	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705318	SCV002063453	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	CHD2: BS1
Ambry Genetics	RCV002338790	SCV002644363	likely benign	Inborn genetic diseases	2017-12-15	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.