Submissions for variant NM_030962.3(SBF2):c.4571-6C>T (rs2645029)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics,PreventionGenetics	RCV000249680	SCV000314751	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000613689	SCV000375040	benign	Charcot-Marie-Tooth disease, type 4B2	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc	RCV000249680	SCV000615014	benign	not specified	2017-07-12	criteria provided, single submitter	clinical testing
Invitae	RCV000349837	SCV001000091	benign	Charcot-Marie-Tooth disease type 4	2019-12-31	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173997	SCV001337117	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	RCV000613689	SCV000733119	benign	Charcot-Marie-Tooth disease, type 4B2		no assertion criteria provided	clinical testing