ClinVar Miner

Submissions for variant NM_001999.3(FBN2):c.2260G>A (p.Gly754Ser) (rs145259927)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254098 SCV000318310 likely benign Cardiovascular phenotype 2018-02-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Subpopulation frequency in support of benign classification
Center for Human Genetics, Inc RCV000659602 SCV000781441 likely benign Connective tissue disorder 2016-11-01 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
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000200659 SCV000331455 likely benign not specified 2015-12-09 criteria provided, single submitter clinical testing
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.
Illumina Clinical Services Laboratory,Illumina RCV000395545 SCV000452629 likely benign Congenital contractural arachnodactyly 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000395545 SCV000563005 likely benign Congenital contractural arachnodactyly 2017-10-13 criteria provided, single submitter clinical testing

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