ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1216T>A (p.Leu406Ile) (rs200062984)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618392 SCV000739758 uncertain significance Cardiovascular phenotype 2017-07-12 criteria provided, single submitter clinical testing Insufficient evidence
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660316 SCV000782359 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-11-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000660316 SCV001333562 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-02-01 criteria provided, single submitter clinical testing
Color RCV000660316 SCV001352017 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-09-23 criteria provided, single submitter clinical testing

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