ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) (rs150821246)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187994 SCV000241597 likely benign not specified 2016-12-05 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.
Illumina Clinical Services Laboratory,Illumina RCV000407786 SCV000471893 likely benign Benign familial neonatal seizures 2 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000285383 SCV000471894 likely benign Benign familial neonatal seizures 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000285383 SCV000543213 likely benign Benign familial neonatal seizures 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000858271 SCV000613882 likely benign not provided 2018-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720766 SCV000851648 likely benign Seizures 2019-06-06 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656017 SCV000588293 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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.