ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) (rs2228047)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030547 SCV000053218 benign Loeys-Dietz syndrome 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037731 SCV000061393 benign not specified 2009-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000037731 SCV000168943 benign not specified 2012-10-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000037731 SCV000309518 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000617140 SCV000317709 benign Cardiovascular phenotype 2015-07-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030547 SCV000442889 benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370024 SCV000442890 benign Loeys-Dietz syndrome 2 2018-01-13 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.
Illumina Clinical Services Laboratory,Illumina RCV000253560 SCV000442891 benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000253560 SCV000559159 benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000037731 SCV000884688 benign not specified 2018-07-07 criteria provided, single submitter clinical testing
Color RCV000253560 SCV000902791 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-16 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.