ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2940C>T (p.Cys980=) (rs143255082)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000176390 SCV000168481 benign not specified 2013-12-21 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176390 SCV000228040 benign not specified 2014-12-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000176390 SCV000308605 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000243772 SCV000317724 benign Cardiovascular phenotype 2015-04-24 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000318191 SCV000452619 benign Congenital contractural arachnodactyly 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000318191 SCV000563044 benign Congenital contractural arachnodactyly 2020-12-01 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000318191 SCV000745430 likely benign Congenital contractural arachnodactyly 2017-06-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000318191 SCV000745935 benign Congenital contractural arachnodactyly 2016-09-27 no assertion criteria provided clinical testing

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