ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.1260T>C (p.Thr420=)

gnomAD frequency: 0.59625  dbSNP: rs3917981
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 RCV000248446 SCV000305509 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000248446 SCV000538741 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: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001517463 SCV001725966 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001517463 SCV001876367 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713444 SCV005285164 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.