ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) (rs201255083)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724116 SCV000224367 uncertain significance not provided 2014-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000197074 SCV000250093 likely benign not specified 2017-03-08 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.
Ambry Genetics RCV000247673 SCV000318114 likely benign Cardiovascular phenotype 2018-05-24 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Illumina Clinical Services Laboratory,Illumina RCV000389183 SCV000452660 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.
Invitae RCV000389183 SCV000563012 likely benign Congenital contractural arachnodactyly 2020-12-03 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000389183 SCV000745437 likely benign Congenital contractural arachnodactyly 2017-11-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000389183 SCV000745943 likely benign Congenital contractural arachnodactyly 2017-01-24 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000724116 SCV001798607 likely benign not provided no assertion criteria provided clinical testing

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