ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.1345G>A (p.Val449Ile) (rs139058991)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148499 SCV000190208 uncertain significance Marfan syndrome 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Color RCV000771785 SCV000904469 likely benign Thoracic aortic aneurysm and aortic dissection 2018-07-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455446 SCV000539150 uncertain significance not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 proband, no segs; ExAC: 1/8604 East Asian chromosomes

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