ClinVar Miner

Submissions for variant NC_000001.11:g.173917430G>C

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003527194 SCV004293844 likely pathogenic Hereditary antithrombin deficiency 2022-10-20 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant occurs in a non-coding region of the SERPINC1 gene. It does not change the encoded amino acid sequence of the SERPINC1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with antithrombin III deficiency (PMID: 22234719, 27003919). It has also been observed to segregate with disease in related individuals. This variant is also known as g.2143C>G or c.1-171C>G. Studies have shown that this variant alters SERPINC1 gene expression (PMID: 22234719).

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.