ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.2227CTC[1] (p.Leu744del)

dbSNP: rs1598702827
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
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852078 SCV000899603 likely pathogenic Thrombocytopenia; Abnormal platelet aggregation 2019-02-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002533976 SCV003443204 uncertain significance not provided 2022-08-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 627279). This variant is also known as c.2230_2232delCTC (Leu718del). This variant has been observed in individual(s) with macrothrombocytopenia (PMID: 29296966). This variant, c.2230_2232del, results in the deletion of 1 amino acid(s) of the ITGB3 protein (p.Leu744del), but otherwise preserves the integrity of the reading frame.

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.