ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8972G>A (p.Arg2991His)

gnomAD frequency: 0.00084  dbSNP: rs192610957
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
Athena Diagnostics RCV001644612 SCV000614992 benign not specified 2021-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765119 SCV000896341 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085517 SCV001004560 likely benign Spastic paraplegia 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000518535 SCV001148935 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000765119 SCV002026595 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848898 SCV002105110 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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.