ClinVar Miner

Submissions for variant NM_000488.3(SERPINC1):c.89T>A (p.Val30Glu) (rs2227624)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000019628 SCV000253285 likely benign Antithrombin III deficiency 2019-12-31 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852239 SCV000899977 uncertain significance Thromboembolism 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000019628 SCV000899978 uncertain significance Antithrombin III deficiency 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852240 SCV000899979 uncertain significance Deep venous thrombosis 2019-02-01 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000857628 SCV001147555 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000019628 SCV001258216 benign Antithrombin III deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
OMIM RCV000019628 SCV000039926 pathogenic Antithrombin III deficiency 1992-12-01 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.