ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4527C>T (p.Ile1509=)

gnomAD frequency: 0.04350  dbSNP: rs34315566
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
PreventionGenetics, part of Exact Sciences RCV000245944 SCV000307177 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000245944 SCV000522830 benign not specified 2016-01-18 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 RCV000460923 SCV000563083 benign Developmental and epileptic encephalopathy 94 2025-02-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711188 SCV000841519 benign not provided 2017-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311374 SCV000846690 benign Inborn genetic diseases 2016-04-26 criteria provided, single submitter clinical testing This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics RCV000711188 SCV005297525 benign not provided criteria provided, single submitter not provided

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.