ClinVar Miner

Submissions for variant NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) (rs10482810)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000514721 SCV000605367 benign not provided 2017-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617048 SCV000319480 likely benign Cardiovascular phenotype 2018-03-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Blueprint Genetics RCV000143953 SCV000188833 uncertain significance Thoracic aortic aneurysm and aortic dissection 2013-10-11 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000143953 SCV000900955 likely benign Thoracic aortic aneurysm and aortic dissection 2017-09-08 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000415676 SCV000782351 benign Loeys-Dietz syndrome 4 2016-11-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514721 SCV000610833 likely benign not provided 2017-03-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000196984 SCV000858025 likely benign not specified 2017-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000196984 SCV000250836 benign not specified 2017-02-22 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 RCV000330116 SCV000354244 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000231329 SCV000287902 benign Holt-Oram syndrome 2017-12-29 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000415676 SCV000493807 uncertain significance Loeys-Dietz syndrome 4 2016-03-30 criteria provided, single submitter clinical testing
PreventionGenetics RCV000196984 SCV000309501 benign not specified criteria provided, single submitter clinical testing

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