Submissions for variant NM_001271.4(CHD2):c.4278+5T>C

gnomAD frequency: 0.00019  dbSNP: rs202174434

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000658726	SCV000523574	benign	not provided	2019-06-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000651641	SCV000773495	likely benign	Developmental and epileptic encephalopathy 94	2025-02-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000658726	SCV000780513	likely benign	not provided	2021-08-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002318427	SCV000851300	likely benign	Inborn genetic diseases	2018-02-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000658726	SCV001744327	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000658726	SCV001930228	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004735514	SCV005343721	likely benign	CHD2-related disorder	2024-06-06	no assertion criteria provided	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).