ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro) (rs149141477)

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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 RCV000242279 SCV000319278 uncertain significance Cardiovascular phenotype 2015-02-10 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660320 SCV000782364 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000983821 SCV001131848 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing
Color RCV000660320 SCV001356686 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-30 criteria provided, single submitter clinical testing

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