Submissions for variant NM_001271.4(CHD2):c.608A>G (p.Lys203Arg)

gnomAD frequency: 0.00256  dbSNP: rs117844037

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000246416	SCV000520449	benign	not specified	2018-02-15	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	RCV000474584	SCV000563085	benign	Developmental and epileptic encephalopathy 94	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313980	SCV000848930	likely benign	Inborn genetic diseases	2018-07-02	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.
Genetic Services Laboratory, University of Chicago	RCV000246416	SCV002071219	benign	not specified	2017-12-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001700021	SCV002545316	benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	CHD2: BP4, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV000474584	SCV002808871	likely benign	Developmental and epileptic encephalopathy 94	2022-04-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001700021	SCV005214039	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004529426	SCV000307180	benign	CHD2-related disorder	2021-03-03	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001700021	SCV001927053	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001700021	SCV001966956	likely benign	not provided		no assertion criteria provided	clinical testing