Submissions for variant NM_030962.4(SBF2):c.513+17G>C

gnomAD frequency: 0.01551  dbSNP: rs73410819

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000439447	SCV000514463	benign	not specified	2015-04-08	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514639	SCV000609919	likely benign	not provided	2017-09-06	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172814	SCV001335883	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001284837	SCV001470928	benign	Charcot-Marie-Tooth disease type 4B2	2023-08-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002061497	SCV002348808	benign	Charcot-Marie-Tooth disease type 4	2024-01-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001284837	SCV002797190	benign	Charcot-Marie-Tooth disease type 4B2	2022-03-08	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000514639	SCV005221315	likely benign	not provided		criteria provided, single submitter	not provided