Submissions for variant NM_000138.5(FBN1):c.5066-14dup

dbSNP: rs3833018

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001719972	SCV000233708	benign	not provided	2018-05-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000155352	SCV000302563	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000365244	SCV000392321	benign	Weill-Marchesani syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000273026	SCV000392322	benign	Acromicric dysplasia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000325512	SCV000392323	benign	Geleophysic dysplasia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000267078	SCV000392325	benign	Stiff skin syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000181406	SCV000392326	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000377023	SCV000392327	benign	Marfan syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000284902	SCV000392328	benign	Ectopia lentis	2016-06-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000181406	SCV000902609	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-04-08	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001719972	SCV002058054	benign	not provided	2021-11-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002056080	SCV002407702	benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2024-02-01	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155352	SCV000205038	not provided	not specified	2014-06-05	no assertion provided	clinical testing	5066-14_5066-13insT in intron 40 of FBN1: This variant is not expected to have clinical significance because it has been identified in 1% (85/8254) of European American chromosomes and 2.89% (123/4264) of African American chromosomes by the NHLBI Exome Sequencing Project, and it is not located within the splice consensus sequence. (http://evs.gs.washington.edu/EVS/; dbSNP rs3833018).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000155352	SCV001808466	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000155352	SCV001928928	benign	not specified		no assertion criteria provided	clinical testing