ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) (rs143907156)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125057 SCV000168497 benign not specified 2014-01-11 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.
PreventionGenetics,PreventionGenetics RCV000125057 SCV000308621 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000253627 SCV000317898 likely benign Cardiovascular phenotype 2014-12-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000472719 SCV000563016 likely benign Congenital contractural arachnodactyly 2020-11-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000125057 SCV000603677 benign not specified 2016-08-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512798 SCV000609173 likely benign not provided 2017-06-01 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000472719 SCV000745428 likely benign Congenital contractural arachnodactyly 2017-06-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000472719 SCV000745933 likely benign Congenital contractural arachnodactyly 2017-09-29 no assertion criteria provided clinical testing

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