ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) (rs56014374)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617065 SCV000319698 likely benign Cardiovascular phenotype 2017-05-03 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
Center for Human Genetics, Inc RCV000251582 SCV000782357 likely benign Thoracic aortic aneurysm and aortic dissection 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000251582 SCV000902962 likely benign Thoracic aortic aneurysm and aortic dissection 2018-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000200131 SCV000250872 likely benign not specified 2017-08-08 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 RCV000292925 SCV000475615 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349783 SCV000475616 likely benign Loeys-Dietz syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000251582 SCV000475617 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000251582 SCV000559247 likely benign Thoracic aortic aneurysm and aortic dissection 2018-01-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000200131 SCV000310512 likely benign not specified criteria provided, single submitter clinical testing

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