ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.2060G>A (p.Arg687His)

gnomAD frequency: 0.00101  dbSNP: rs3742602
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243750 SCV000305900 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267682 SCV000387825 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304071 SCV000387826 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812689 SCV002048439 likely benign not provided 2022-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001812689 SCV002484105 benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812689 SCV005219461 likely benign not provided criteria provided, single submitter not provided

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.