ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.810T>C (p.Asn270=) (rs147388628)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617814 SCV000739755 likely benign Cardiovascular phenotype 2017-05-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Color RCV000462278 SCV000905106 likely benign Thoracic aortic aneurysm and aortic dissection 2018-07-09 criteria provided, single submitter clinical testing
Invitae RCV000462278 SCV000559248 likely benign Thoracic aortic aneurysm and aortic dissection 2018-01-08 criteria provided, single submitter clinical testing

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