ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) (rs113194608)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125488 SCV000168940 benign not specified 2012-10-25 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.
Invitae RCV000233588 SCV000287917 benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125488 SCV000309514 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000617145 SCV000318669 likely benign Cardiovascular phenotype 2015-11-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000233588 SCV000442874 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333236 SCV000442875 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385424 SCV000442876 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000125488 SCV000597486 likely benign not specified 2016-08-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000125488 SCV000605377 benign not specified 2018-07-14 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000233588 SCV000782367 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-11-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000233588 SCV000901786 benign Familial thoracic aortic aneurysm and aortic dissection 2017-09-20 criteria provided, single submitter clinical testing
Color RCV000233588 SCV000910714 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000125488 SCV000272926 benign not specified 2015-06-04 no assertion criteria provided clinical testing p.Leu354Leu in exon 4 of TGFBR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1.6% (236/14206) of South Asian chromosomes including 5 homozygotes by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs113194608).

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