Submissions for variant NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) (rs141330687)

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000175483	SCV000226967	benign	not specified	2014-11-09	criteria provided, single submitter	clinical testing
Invitae	RCV000206768	SCV000261821	benign	Charcot-Marie-Tooth disease type 4	2019-12-31	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001094125	SCV000375066	likely benign	Charcot-Marie-Tooth disease, type 4B2	2017-06-30	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000438792	SCV000511181	likely benign	not provided	2016-10-10	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000175483	SCV000514466	likely benign	not specified	2017-08-01	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.
Genetic Services Laboratory,University of Chicago	RCV000175483	SCV000596939	likely benign	not specified	2019-07-08	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000438792	SCV000843561	benign	not provided	2019-08-12	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000438792	SCV000891952	likely benign	not provided	2019-07-01	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173128	SCV001336204	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV001094125	SCV001474487	likely benign	Charcot-Marie-Tooth disease, type 4B2	2020-07-30	criteria provided, single submitter	clinical testing