Submissions for variant NM_001999.4(FBN2):c.8520C>T (p.Asn2840=)

gnomAD frequency: 0.00006  dbSNP: rs139098335

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000841668	SCV000983648	likely benign	not provided	2021-04-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002442781	SCV002681562	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-08-05	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	RCV002538317	SCV003260470	benign	Congenital contractural arachnodactyly	2024-01-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000841668	SCV004699827	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	FBN2: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000841668	SCV001807107	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000841668	SCV001968743	likely benign	not provided		no assertion criteria provided	clinical testing