ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.306C>T (p.Cys102=) (rs25388)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756133 SCV000883853 benign not provided 2017-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617060 SCV000317397 likely benign Cardiovascular phenotype 2014-12-24 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000253616 SCV000902142 benign Thoracic aortic aneurysm and aortic dissection 2016-09-19 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659501 SCV000781320 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000253616 SCV000902783 benign Thoracic aortic aneurysm and aortic dissection 2018-03-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154417 SCV000342412 benign not specified 2016-06-30 criteria provided, single submitter clinical testing
GeneDx RCV000154417 SCV000168466 benign not specified 2013-06-19 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 RCV000382318 SCV000392706 likely benign Geleophysic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287932 SCV000392707 likely benign MASS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347453 SCV000392708 likely benign Stiff skin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407439 SCV000392709 likely benign Acromicric dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293746 SCV000392710 likely benign Ectopia lentis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348609 SCV000392711 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000253616 SCV000392712 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313423 SCV000392713 likely benign Weill-Marchesani syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000230637 SCV000283617 benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2018-01-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154417 SCV000204085 benign not specified 2011-07-01 criteria provided, single submitter clinical testing Cys102Cys in Exon 03 of FBN1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.7% (52/7020) of Europ ean American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs25388).
PreventionGenetics RCV000154417 SCV000302547 benign not specified criteria provided, single submitter clinical testing

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