ClinVar Miner

Submissions for variant NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg)

gnomAD frequency: 0.00054  dbSNP: rs28931583
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
Baylor Genetics RCV000019332 SCV001520565 uncertain significance Hereditary spherocytosis type 4 2019-09-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811190 SCV002049071 uncertain significance not provided 2020-12-04 criteria provided, single submitter clinical testing
Invitae RCV001811190 SCV002392389 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001811190 SCV003821407 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing
OMIM RCV000019332 SCV000039622 pathogenic Hereditary spherocytosis type 4 1992-07-15 no assertion criteria provided literature only

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.