ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.638C>T (p.Ser213Phe)

gnomAD frequency: 0.00038  dbSNP: rs1254442456
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002543423 SCV003483905 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-02-06 criteria provided, single submitter clinical testing
Guerreiro-Bras Laboratory, Van Andel Institute RCV001848607 SCV002106320 likely pathogenic Frontotemporal dementia 2022-02-02 no assertion criteria provided research

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.