ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.6789-8del

dbSNP: rs5778083
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
Illumina Laboratory Services, Illumina RCV000350707 SCV000349195 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397702 SCV000349196 likely benign Pyropoikilocytosis, hereditary 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306238 SCV000349197 likely benign Spherocytosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506143 SCV000605278 benign not specified 2018-08-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502160 SCV002808499 benign Elliptocytosis 2; Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3 2022-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519400 SCV003236875 benign not provided 2023-12-13 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.