ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.585C>T (p.Asn195=)

gnomAD frequency: 0.08024  dbSNP: rs34775878
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000118412 SCV007300177 benign not specified 2017-08-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001520559 SCV005213140 likely benign not provided criteria provided, single submitter not provided
GeneDx RCV001520559 SCV001849722 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520559 SCV001729685 benign not provided 2026-02-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000576850 SCV000677452 benign Spinocerebellar ataxia type 5 2017-04-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118412 SCV000152812 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.