ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=)

gnomAD frequency: 0.00006  dbSNP: rs371535973
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000403446 SCV000373358 uncertain significance Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056222 SCV002329835 likely benign not provided 2022-11-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999275 SCV005622264 benign not specified 2024-04-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940160 SCV004747282 likely benign SPTBN2-related disorder 2019-05-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.