ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) (rs144822241)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154718 SCV000168455 benign not specified 2014-01-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154718 SCV000204398 likely benign not specified 2013-04-02 criteria provided, single submitter clinical testing Cys2096Cys in Exon 50 of FBN1: This variant is not expected to have clinical sig nificance because it does not alter the amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.02% (1/4396) of African American chromosomes from a large population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs144822241).
Genetic Services Laboratory, University of Chicago RCV000154718 SCV000594754 likely benign not specified 2016-12-29 criteria provided, single submitter clinical testing
Invitae RCV001079546 SCV000627959 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-11-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000553537 SCV001149450 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000154718 SCV001157538 likely benign not specified 2019-03-30 criteria provided, single submitter clinical testing
Color Health, Inc RCV001180816 SCV001345840 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-08 criteria provided, single submitter clinical testing

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