ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) (rs78727187)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195111 SCV000247363 uncertain significance not specified 2014-05-09 criteria provided, single submitter clinical testing
GeneDx RCV000195111 SCV000250109 benign not specified 2016-06-22 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.
PreventionGenetics,PreventionGenetics RCV000195111 SCV000308614 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000246303 SCV000317670 likely benign Cardiovascular phenotype 2018-10-05 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification
Illumina Clinical Services Laboratory,Illumina RCV000331925 SCV000452596 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.
Invitae RCV000331925 SCV000563019 benign Congenital contractural arachnodactyly 2020-11-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000195111 SCV000708601 likely benign not specified 2017-05-22 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659617 SCV000781456 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285926 SCV001472439 likely benign none provided 2020-04-29 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573307 SCV001798977 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000195111 SCV001809296 benign not specified no assertion criteria provided clinical testing

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