ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.330G>A (p.Arg110=)

gnomAD frequency: 0.00140  dbSNP: rs138626801
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423100 SCV000525835 benign not specified 2016-04-11 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 RCV000555544 SCV000654331 benign Developmental and epileptic encephalopathy 94 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311495 SCV000846647 likely benign Inborn genetic diseases 2016-05-11 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.
CeGaT Center for Human Genetics Tuebingen RCV003392243 SCV004130929 benign not provided 2022-07-01 criteria provided, single submitter clinical testing CHD2: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003392243 SCV005214036 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004539842 SCV004777984 benign CHD2-related disorder 2019-09-06 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.