ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) (rs154001)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117020 SCV000151142 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000117020 SCV000168480 benign not specified 2012-11-13 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 RCV000117020 SCV000269093 benign not specified 2014-12-02 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.2893G) is the minor allele. This a llele (G) has been identified in 32% (2754/8600) of European American chromosome s and 37% (1640/4406) of African American chromosomes by the NHLBI Exome Sequenc ing Project (; dbSNP rs154001) and thus meets c riteria to be classified as benign.
PreventionGenetics,PreventionGenetics RCV000117020 SCV000308604 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000244792 SCV000317687 benign Cardiovascular phenotype 2014-11-19 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 RCV000342582 SCV000452622 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282761 SCV000603673 benign none provided 2020-08-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589118 SCV000697892 benign not provided 2017-03-22 criteria provided, single submitter clinical testing Variant summary: The FBN2 c.2893G>A (p.Val965Ile) variant causes a missense change involving the alteration of a conserved nucleotide that 4/4 in silico tools (Mutation Taster not captured here due to low p-value) predict a benign outcome. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 0.7233944 (87496/120952 (32094 homozygotes)), therefore, suggesting that the A allele is the major allele, the allele most commonly observed in the general population. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000342582 SCV000745431 benign Congenital contractural arachnodactyly 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV000342582 SCV001728669 benign Congenital contractural arachnodactyly 2020-12-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000342582 SCV000734377 benign Congenital contractural arachnodactyly no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000342582 SCV000745936 benign Congenital contractural arachnodactyly 2014-02-04 no assertion criteria provided clinical testing

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