ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.111G>A (p.Pro37=) (rs55715053)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117015 SCV000168468 benign not specified 2012-11-16 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 RCV000117015 SCV000269090 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Pro37Pro in exon 1 of FBN2: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 26.1% (1123/4298) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs55715053).
PreventionGenetics,PreventionGenetics RCV000117015 SCV000308588 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000243412 SCV000317306 benign Cardiovascular phenotype 2015-01-27 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 RCV000325371 SCV000452659 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282911 SCV000603676 benign none provided 2020-08-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000325371 SCV000743989 benign Congenital contractural arachnodactyly 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV000325371 SCV001730871 benign Congenital contractural arachnodactyly 2020-12-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117015 SCV000151136 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 RCV000325371 SCV000745942 benign Congenital contractural arachnodactyly 2014-11-19 no assertion criteria provided clinical testing

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