ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)

gnomAD frequency: 0.00034  dbSNP: rs34833812
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617156 SCV000317327 benign Cardiovascular phenotype 2018-09-25 criteria provided, single submitter clinical testing In silico models in agreement (benign);Intact protein function observed in appropriate functional assay(s);Other strong data supporting benign classification
Illumina Laboratory Services,Illumina RCV001094839 SCV000442862 likely benign Loeys-Dietz syndrome 2 2019-01-10 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services,Illumina RCV000290470 SCV000442863 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000344037 SCV000442864 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001310481 SCV000514893 benign not provided 2018-06-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17935258, 9590282, 22995991, 20144264, 15235604, 16251899, 18339844, 27647783, 31769227)
Invitae RCV000247266 SCV000559153 benign Familial thoracic aortic aneurysm and aortic dissection 2020-12-06 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626289 SCV000746948 likely pathogenic Familial colorectal cancer 2017-12-18 criteria provided, single submitter clinical testing
Color Health, Inc RCV000247266 SCV000903189 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-08 criteria provided, single submitter clinical testing
Mendelics RCV000344037 SCV001136353 uncertain significance Marfan syndrome 2019-05-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000247266 SCV001333522 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-04-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276544 SCV002566163 benign Ehlers-Danlos syndrome 2020-02-01 criteria provided, single submitter clinical testing
OMIM RCV000013325 SCV000033572 pathogenic Colorectal cancer, hereditary nonpolyposis, type 6 1998-05-01 no assertion criteria provided literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001310481 SCV001797497 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001310481 SCV001931279 likely benign not provided no assertion criteria provided 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.