ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1116G>A (p.Lys372=) (rs753782498)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244608 SCV000318520 likely benign Cardiovascular phenotype 2013-03-11 criteria provided, single submitter clinical testing
Invitae RCV000654823 SCV000776724 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000654823 SCV000901787 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-09-25 criteria provided, single submitter clinical testing
Color RCV000654823 SCV000913469 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-07-20 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000858148 SCV001153823 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing

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