ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.3423G>A (p.Pro1141=) (rs140396599)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620939 SCV000738437 likely benign Cardiovascular phenotype 2016-01-08 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000314068 SCV000807920 likely benign Marfan syndrome 2018-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000035171 SCV000512995 likely benign not specified 2017-12-11 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 RCV000390665 SCV000392443 likely benign Stiff skin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314068 SCV000392444 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371111 SCV000392445 likely benign Ectopia lentis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269509 SCV000392446 likely benign Geleophysic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308253 SCV000392447 likely benign Weill-Marchesani syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364769 SCV000392448 likely benign Acromicric dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272535 SCV000392449 likely benign MASS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320608 SCV000392450 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000632032 SCV000753135 likely benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-11-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035171 SCV000058813 uncertain significance not specified 2008-09-15 no assertion criteria provided clinical testing

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