ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) (rs7861780)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756775 SCV000884685 benign not provided 2017-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617034 SCV000317378 likely benign Cardiovascular phenotype 2015-02-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000245145 SCV000901797 likely benign Thoracic aortic aneurysm and aortic dissection 2017-05-12 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000245145 SCV000782358 likely benign Thoracic aortic aneurysm and aortic dissection 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000245145 SCV000902764 likely benign Thoracic aortic aneurysm and aortic dissection 2018-03-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038235 SCV000231696 benign not specified 2014-09-05 criteria provided, single submitter clinical testing
GeneDx RCV000038235 SCV000171992 benign not specified 2013-02-28 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.
Illumina Clinical Services Laboratory,Illumina RCV000030538 SCV000475639 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000245145 SCV000475640 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305975 SCV000475641 likely benign Loeys-Dietz syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030538 SCV000053209 benign Loeys-Dietz syndrome 2011-11-01 no assertion criteria provided clinical testing
Invitae RCV000245145 SCV000559250 benign Thoracic aortic aneurysm and aortic dissection 2018-01-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038235 SCV000061903 benign not specified 2012-03-13 criteria provided, single submitter clinical testing Thr375Thr in exon 6 of TGFBR1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and it has been identified in 0.4% (29/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs7861780).
PreventionGenetics RCV000038235 SCV000310509 benign not specified criteria provided, single submitter clinical testing

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