ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6932G>A (p.Arg2311His) (rs141868829)

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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 RCV000250909 SCV000302584 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000181704 SCV000317721 uncertain significance Cardiovascular phenotype 2012-08-28 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
Color RCV001183741 SCV001349557 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-12-12 criteria provided, single submitter clinical testing

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