ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.1101C>A (p.Pro367=)

gnomAD frequency: 0.02543  dbSNP: rs61749920
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
Eurofins Ntd Llc (ga) RCV000180639 SCV000233118 benign not specified 2015-06-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000180639 SCV000540462 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
Labcorp Genetics (formerly Invitae), Labcorp RCV000544095 SCV000641787 benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV002225494 SCV002504007 benign not provided 2022-04-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002225494 SCV005250355 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.