ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.3797A>T (p.Tyr1266Phe) (rs200283837)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756134 SCV000883855 uncertain significance not provided 2017-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622041 SCV000738823 uncertain significance Cardiovascular phenotype 2016-07-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
CSER_CC_NCGL; University of Washington Medical Center RCV000148489 SCV000190193 likely benign Marfan syndrome 2014-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics,University of Washington RCV000755197 SCV000883026 uncertain significance Familial thoracic aortic aneurysm; Acute aortic dissection 2016-01-20 no assertion criteria provided research

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