ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) (rs145259927)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200659 SCV000250169 likely benign not specified 2018-02-05 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.
Ambry Genetics RCV000254098 SCV000318310 likely benign Cardiovascular phenotype 2018-02-01 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000200659 SCV000331455 likely benign not specified 2015-12-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395545 SCV000452629 likely benign Congenital contractural arachnodactyly 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000395545 SCV000563005 likely benign Congenital contractural arachnodactyly 2020-11-11 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514878 SCV000610533 likely benign not provided 2017-06-02 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659602 SCV000781441 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Mendelics RCV000395545 SCV001136967 likely benign Congenital contractural arachnodactyly 2019-05-28 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000584284 SCV000692232 uncertain significance Brain Aneurysm 2017-03-30 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000514878 SCV001739824 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000514878 SCV001798075 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000514878 SCV001809574 likely benign not provided no assertion criteria provided clinical testing

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