ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) (rs190450)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117030 SCV000151152 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000117030 SCV000168515 benign not specified 2012-11-02 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 RCV000117030 SCV000269106 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Ser2400Ser in exon 57 of FBN2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 36.8% (1621/4406) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs190450).
PreventionGenetics,PreventionGenetics RCV000117030 SCV000308646 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000254449 SCV000317686 benign Cardiovascular phenotype 2014-11-25 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 RCV000269057 SCV000452552 benign Congenital contractural arachnodactyly 2018-01-12 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.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000269057 SCV000745425 benign Congenital contractural arachnodactyly 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000269057 SCV001728666 benign Congenital contractural arachnodactyly 2020-12-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000269057 SCV000734374 benign Congenital contractural arachnodactyly no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000269057 SCV000745925 benign Congenital contractural arachnodactyly 2014-11-19 no assertion criteria provided clinical testing

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