ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8364+7A>T (rs185052980)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125086 SCV000168526 benign not specified 2014-03-30 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.
Invitae RCV000229729 SCV000287286 benign Congenital contractural arachnodactyly 2020-10-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125086 SCV000308661 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000125086 SCV000342704 likely benign not specified 2016-07-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000229729 SCV000452534 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000229729 SCV000743973 benign Congenital contractural arachnodactyly 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000229729 SCV000745421 likely benign Congenital contractural arachnodactyly 2017-01-19 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000680524 SCV000807926 likely benign Connective tissue disease 2018-06-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285736 SCV001472215 benign none provided 2020-02-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000229729 SCV000745920 benign Congenital contractural arachnodactyly 2014-11-21 no assertion criteria provided clinical testing

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