ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu) (rs363831)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621017 SCV000738416 likely benign Cardiovascular phenotype 2015-09-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene,Other data supporting benign classification
Color RCV000371988 SCV000904504 benign Thoracic aortic aneurysm and aortic dissection 2018-06-25 criteria provided, single submitter clinical testing
GeneDx RCV000614476 SCV000728419 benign not specified 2017-02-21 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 RCV000265846 SCV000392156 likely benign Ectopia lentis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320863 SCV000392157 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356993 SCV000392158 likely benign Weill-Marchesani syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262062 SCV000392159 likely benign Geleophysic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317229 SCV000392160 likely benign Stiff skin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371988 SCV000392161 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296204 SCV000392162 likely benign Acromicric dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332220 SCV000392163 likely benign MASS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000540583 SCV000627980 benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-09-07 criteria provided, single submitter clinical testing

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