ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5675-9C>T (rs27713)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117024 SCV000168504 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 RCV000117024 SCV000269098 benign not specified 2013-04-04 criteria provided, single submitter clinical testing 5675-9C>T in intron 44 of FBN2: This variant is not expected to have clinical si gnificance because it has been identified in 86.5% (173/200) of Han Chinese chro mosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm .nih.gov/projects/SNP; dbSNP rs60746914).
PreventionGenetics,PreventionGenetics RCV000117024 SCV000308625 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374659 SCV000452577 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000374659 SCV000743978 benign Congenital contractural arachnodactyly 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV000374659 SCV001728668 benign Congenital contractural arachnodactyly 2020-12-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117024 SCV000151146 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000374659 SCV000734376 benign Congenital contractural arachnodactyly no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000374659 SCV000745929 benign Congenital contractural arachnodactyly 2014-02-04 no assertion criteria provided clinical testing

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