ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1497A>G (p.Glu499=) (rs200055681)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242124 SCV000310511 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000531762 SCV000658846 likely benign not provided 2018-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621376 SCV000739751 likely benign Cardiovascular phenotype 2016-11-30 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)

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