ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.455-4T>A (rs11466512)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000037737 SCV000605375 benign not specified 2016-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617139 SCV000317697 benign Cardiovascular phenotype 2015-02-10 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 RCV000250660 SCV000910512 benign Thoracic aortic aneurysm and aortic dissection 2018-03-09 criteria provided, single submitter clinical testing
GeneDx RCV000037737 SCV000168937 benign not specified 2012-11-20 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 RCV000322117 SCV000442838 benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374376 SCV000442839 benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000250660 SCV000442840 benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037737 SCV000061399 benign not specified 2011-09-19 criteria provided, single submitter clinical testing
PreventionGenetics RCV000037737 SCV000309522 benign not specified criteria provided, single submitter clinical testing

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