ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5674+7A>G

gnomAD frequency: 0.00049  dbSNP: rs367877964
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125063 SCV000168503 benign not specified 2014-02-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000457791 SCV000563014 likely benign Congenital contractural arachnodactyly 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000457791 SCV000743979 benign Congenital contractural arachnodactyly 2014-10-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000457791 SCV001316239 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277261 SCV002565937 likely benign Ehlers-Danlos syndrome 2019-05-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573067 SCV004159321 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing FBN2: BP4
PreventionGenetics, part of Exact Sciences RCV003925235 SCV004753795 likely benign FBN2-related disorder 2019-06-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000125063 SCV004804260 benign not specified 2024-01-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000457791 SCV000745930 likely benign Congenital contractural arachnodactyly 2014-02-04 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573067 SCV001798393 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001573067 SCV001952809 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573067 SCV001968363 likely benign not provided no assertion criteria provided clinical testing

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