ClinVar Miner

Submissions for variant NM_172245.4(CSF2RA):c.300T>C (p.Thr100=)

gnomAD frequency: 0.00349  dbSNP: rs144521208
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000223467 SCV000268917 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr100Thr in exon 6 of CSF2RA: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1.1% (48/4406) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs144521208).
Labcorp Genetics (formerly Invitae), Labcorp RCV000646176 SCV000767935 benign Surfactant metabolism dysfunction, pulmonary, 4 2025-01-24 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.