ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2420-8T>C

gnomAD frequency: 0.00163  dbSNP: rs140582
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124997 SCV000168437 benign not specified 2014-01-12 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 Laboratory Services, Illumina RCV000404732 SCV000392546 likely benign Weill-Marchesani syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305268 SCV000392547 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359876 SCV000392548 likely benign Geleophysic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000404502 SCV000392549 likely benign MASS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301668 SCV000392550 likely benign Ectopia lentis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000365668 SCV000392551 likely benign Stiff skin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271453 SCV000392552 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000326569 SCV000392553 likely benign Acromicric dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000550392 SCV000627857 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2025-02-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000271453 SCV001353181 benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001796723 SCV002050122 likely benign not provided 2023-07-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000271453 SCV004240567 benign Familial thoracic aortic aneurysm and aortic dissection 2023-05-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001796723 SCV005212677 likely benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV001796723 SCV005893959 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing FBN1: BP4, BS1
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000124997 SCV002033994 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796723 SCV002038454 likely benign not provided no assertion criteria provided clinical testing

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