ClinVar Miner

Submissions for variant NM_002977.3(SCN9A):c.1964A>G (p.Lys655Arg) (rs121908919)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000488281 SCV000884492 likely benign not provided 2017-07-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000153918 SCV000615123 likely benign not specified 2017-07-12 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488281 SCV000575256 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415152 SCV000492679 uncertain significance Global developmental delay; Seizures; Hypoglycemia 2016-01-14 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153918 SCV000203534 likely benign not specified 2014-04-15 criteria provided, single submitter clinical testing
GeneDx RCV000153918 SCV000514581 likely benign not specified 2017-05-05 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.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000006739 SCV000746815 likely benign Generalized epilepsy with febrile seizures plus, type 7 2017-12-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293601 SCV000418635 likely benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000240382 SCV000299163 benign Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2017-12-27 criteria provided, single submitter clinical testing
OMIM RCV000006739 SCV000026930 pathogenic Generalized epilepsy with febrile seizures plus, type 7 2009-09-01 no assertion criteria provided literature only

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.