Submissions for variant NM_001271.4(CHD2):c.4138-6T>C

gnomAD frequency: 0.00325  dbSNP: rs182330071

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000425756	SCV000524891	benign	not specified	2016-04-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083833	SCV000563088	benign	Developmental and epileptic encephalopathy 94	2025-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000476321	SCV001143541	benign	not provided	2018-12-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000476321	SCV003917428	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	CHD2: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV004533026	SCV004725339	benign	CHD2-related disorder	2022-10-12	no assertion criteria provided	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).