ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.829G>A (p.Val277Ile) (rs146849637)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000514077 SCV000250141 likely benign not provided 2020-10-20 criteria provided, single submitter clinical testing
Invitae RCV000204651 SCV000261991 likely benign Congenital contractural arachnodactyly 2020-11-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000195579 SCV000308658 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000252317 SCV000317371 likely benign Cardiovascular phenotype 2018-06-11 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);Subpopulation frequency in support of benign classification
Illumina Clinical Services Laboratory,Illumina RCV000204651 SCV000452646 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.
Genetic Services Laboratory, University of Chicago RCV000195579 SCV000594756 likely benign not specified 2016-04-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000195579 SCV000603679 benign not specified 2018-11-13 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514077 SCV000610895 likely benign not provided 2017-06-13 criteria provided, single submitter clinical testing
Mendelics RCV000204651 SCV001136970 likely benign Congenital contractural arachnodactyly 2019-05-28 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000583514 SCV000692231 uncertain significance Loeys-Dietz syndrome 2017-03-30 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000195579 SCV001799790 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000514077 SCV001808591 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000514077 SCV001926917 likely benign not provided no assertion criteria provided clinical testing

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