ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.2855-9C>T (rs140590)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000267449 SCV000901043 benign Thoracic aortic aneurysm and aortic dissection 2016-11-30 criteria provided, single submitter clinical testing
Color RCV000267449 SCV000904506 benign Thoracic aortic aneurysm and aortic dissection 2018-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000035153 SCV000168439 benign not specified 2014-04-19 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 RCV000267449 SCV000392532 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322516 SCV000392533 likely benign Stiff skin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377099 SCV000392534 likely benign Weill-Marchesani syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273258 SCV000392535 likely benign Ectopia lentis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327947 SCV000392536 likely benign Acromicric dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382543 SCV000392537 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288136 SCV000392538 likely benign Geleophysic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352381 SCV000392539 likely benign MASS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000470457 SCV000557065 benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-12-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035153 SCV000058794 benign not specified 2008-10-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000035153 SCV000302545 benign not specified criteria provided, single submitter clinical testing

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