Submissions for variant NM_001271.4(CHD2):c.3321C>T (p.Asp1107=)

gnomAD frequency: 0.00262  dbSNP: rs141018126

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000420147	SCV000525557	benign	not specified	2018-03-13	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.
Invitae	RCV001083075	SCV000654332	benign	Developmental and epileptic encephalopathy 94	2024-01-27	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000711185	SCV000841516	benign	not provided	2018-05-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313078	SCV000847456	likely benign	Inborn genetic diseases	2016-07-01	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.