Submissions for variant NM_001999.4(FBN2):c.4983C>T (p.Cys1661=)

gnomAD frequency: 0.00033  dbSNP: rs143907156

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125057	SCV000168497	benign	not specified	2014-01-11	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.
PreventionGenetics, part of Exact Sciences	RCV000125057	SCV000308621	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310699	SCV000317898	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2014-12-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000472719	SCV000563016	likely benign	Congenital contractural arachnodactyly	2025-01-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000512798	SCV000603677	benign	not provided	2023-10-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000512798	SCV000609173	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	FBN2: BP4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000472719	SCV000745428	likely benign	Congenital contractural arachnodactyly	2017-06-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000125057	SCV005381725	benign	not specified	2024-08-27	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000472719	SCV000745933	likely benign	Congenital contractural arachnodactyly	2017-09-29	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000512798	SCV001927059	likely benign	not provided		no assertion criteria provided	clinical testing