ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.4482G>A (p.Val1494=)

gnomAD frequency: 0.34424  dbSNP: rs1741488
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247080 SCV000305918 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387410 SCV000387753 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000295488 SCV000387754 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001640503 SCV000605306 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001640503 SCV001858604 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808679 SCV002056776 benign Hereditary spherocytosis type 2 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV001640503 SCV002406044 benign not provided 2024-01-29 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.