ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.1005C>T (p.Gly335=)

dbSNP: rs74907974
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 RCV000251346 SCV000305544 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000251346 SCV000523068 benign not specified 2016-01-26 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 RCV001081214 SCV000560914 benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716223 SCV000847060 benign Seizure 2016-08-08 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics RCV000458583 SCV001143976 benign not provided 2018-11-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000458583 SCV005297413 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.