ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) (rs6647)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151834 SCV000200307 benign not specified 2013-06-13 criteria provided, single submitter clinical testing Benign based on MAF. See note for OMIM entry (which is responsible for the "wit h pathogenic allele" association in dbSNP)
PreventionGenetics,PreventionGenetics RCV000151834 SCV000303523 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000151834 SCV000331480 benign not specified 2015-10-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406073 SCV000389651 benign Alpha-1-antitrypsin deficiency 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
OMIM RCV000019553 SCV000039850 benign PI M1-ALA213 2016-07-15 no assertion criteria provided literature only
OMIM RCV000019554 SCV000039851 benign PI, M1A 2016-07-15 no assertion criteria provided literature only
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital RCV000406073 SCV000608324 benign Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation

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.