ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) (rs140818646)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617151 SCV000317316 benign Cardiovascular phenotype 2016-09-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color RCV000248591 SCV000913754 benign Thoracic aortic aneurysm and aortic dissection 2018-03-08 criteria provided, single submitter clinical testing
GeneDx RCV000125493 SCV000168945 benign not specified 2014-04-22 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 RCV000336388 SCV000442901 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372324 SCV000442902 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000248591 SCV000442903 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000248591 SCV000559162 benign Thoracic aortic aneurysm and aortic dissection 2017-11-30 criteria provided, single submitter clinical testing
PreventionGenetics RCV000125493 SCV000309519 likely benign not specified criteria provided, single submitter clinical testing

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