ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.4818C>T (p.Tyr1606=)

gnomAD frequency: 0.05960  dbSNP: rs4899145
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246394 SCV000305926 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000321827 SCV000387729 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000378711 SCV000387730 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812697 SCV000605300 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Invitae RCV001812697 SCV002480319 benign not provided 2024-01-22 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.