ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.8502T>C (p.Thr2834=) (rs363847)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000154577 SCV000603664 benign not specified 2017-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617096 SCV000319346 likely benign Cardiovascular phenotype 2015-08-17 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000029795 SCV000807911 likely benign Marfan syndrome 2018-06-01 criteria provided, single submitter clinical testing
Color RCV000251299 SCV000911062 benign Thoracic aortic aneurysm and aortic dissection 2018-03-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154577 SCV000703502 likely benign not specified 2016-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000154577 SCV000168465 benign not specified 2013-09-30 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 RCV000305317 SCV000392028 likely benign Stiff skin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360012 SCV000392029 likely benign MASS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270046 SCV000392030 likely benign Acromicric dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000251299 SCV000392031 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366578 SCV000392032 likely benign Ectopia lentis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271998 SCV000392033 likely benign Geleophysic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029795 SCV000392034 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386370 SCV000392035 likely benign Weill-Marchesani syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029795 SCV000052450 benign Marfan syndrome 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
Invitae RCV000233059 SCV000283658 benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-11-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154577 SCV000204250 benign not specified 2014-08-18 criteria provided, single submitter clinical testing Thr2834Thr in exon 65 of FBN1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.3% (28/8592) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs363847).

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