ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.3294C>T (p.Asp1098=) (rs140587)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224740 SCV000603608 benign not provided 2017-05-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000251910 SCV000317348 benign Cardiovascular phenotype 2015-02-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770678 SCV000902140 benign Thoracic aortic aneurysm and aortic dissection 2016-07-28 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224740 SCV000281199 benign not provided 2015-05-22 criteria provided, single submitter clinical testing
Color RCV000770678 SCV000910715 benign Thoracic aortic aneurysm and aortic dissection 2018-03-16 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202755 SCV000257634 benign Marfan syndrome 2015-05-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035166 SCV000228422 benign not specified 2014-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000035166 SCV000168442 benign not specified 2013-02-07 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 RCV000202755 SCV000392467 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000035166 SCV000864323 likely benign not specified 2017-08-14 criteria provided, single submitter clinical testing BS1, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Invitae RCV000230521 SCV000283620 benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2018-01-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035166 SCV000058808 benign not specified 2009-06-23 criteria provided, single submitter clinical testing
PreventionGenetics RCV000035166 SCV000302549 benign not specified criteria provided, single submitter clinical testing

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