Submissions for variant NM_001999.4(FBN2):c.3848-10G>A

dbSNP: rs140017238

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000423562	SCV000513016	benign	not specified	2016-01-15	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000633641	SCV000754893	likely benign	Congenital contractural arachnodactyly	2025-01-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278657	SCV002565915	uncertain significance	Ehlers-Danlos syndrome	2019-04-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV005230321	SCV005877687	likely benign	not provided	2024-10-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003950352	SCV004762516	likely benign	FBN2-related disorder	2019-10-21	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).