ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5374+16C>T

gnomAD frequency: 0.24325  dbSNP: rs2296872
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081697 SCV000113628 benign not specified 2012-08-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081697 SCV000312311 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001610377 SCV001835451 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055210 SCV002451700 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233102 SCV003931331 benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233103 SCV003931332 benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610377 SCV005319160 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081697 SCV001743635 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000081697 SCV001809077 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000081697 SCV001924990 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000081697 SCV001932883 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000081697 SCV001955003 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000081697 SCV001968377 benign not specified no assertion criteria provided 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.