ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.5788+10C>A (rs371560107)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000035234 SCV000513000 benign not specified 2015-09-21 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 RCV000379530 SCV000392264 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282796 SCV000392265 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321537 SCV000392266 likely benign Weill-Marchesani syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373882 SCV000392267 likely benign Geleophysic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281938 SCV000392268 likely benign Ectopia lentis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334596 SCV000392269 likely benign Stiff skin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406279 SCV000392270 likely benign Acromicric dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296461 SCV000392271 likely benign MASS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000540069 SCV000627941 benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-11-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035234 SCV000058879 likely benign not specified 2010-08-09 criteria provided, single submitter clinical testing This variant has been previously reported in the literature in one individual wi th clinical features of Marfan syndrome. This individual had a second presumed p athogenic variant (Comeglio 2007). In addition, this variant is not expected to be clinically significant as it is neither located in the highly conserved regio n of the splicing consensus sequence nor is it predicted to alter splicing.

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