ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.203C>T (p.Ala68Val) (rs62390671)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079963 SCV000111854 benign not specified 2013-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000079963 SCV000168470 benign not specified 2012-10-31 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 RCV000079963 SCV000269092 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Ala68Val in exon 1 of FBN2: This variant is not expected to have clinical signif icance because it has been identified in 4.7% (400/8582) of European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs62390671).
PreventionGenetics,PreventionGenetics RCV000079963 SCV000308594 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000247352 SCV000317802 benign Cardiovascular phenotype 2014-06-03 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Clinical Services Laboratory,Illumina RCV000383512 SCV000452657 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 RCV000383512 SCV000563039 benign Congenital contractural arachnodactyly 2020-12-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282914 SCV000603682 benign none provided 2020-08-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000383512 SCV000743987 benign Congenital contractural arachnodactyly 2014-10-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079963 SCV000151139 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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000383512 SCV000745940 benign Congenital contractural arachnodactyly 2014-02-04 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000079963 SCV001800322 benign not specified no assertion criteria provided clinical testing

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