ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) (rs2279582)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000176931 SCV000168485 benign not specified 2013-02-21 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 RCV000176931 SCV000228708 benign not specified 2015-05-20 criteria provided, single submitter clinical testing
Invitae RCV000232468 SCV000287261 benign Congenital contractural arachnodactyly 2020-12-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000176931 SCV000308610 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248658 SCV000317728 benign Cardiovascular phenotype 2015-02-13 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 RCV000232468 SCV000452602 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.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659616 SCV000781455 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283471 SCV001158727 benign none provided 2020-08-25 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572873 SCV001797916 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000176931 SCV001809057 benign not specified no assertion criteria provided clinical testing

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