Submissions for variant NM_001370298.3(FGD4):c.2047-7T>C

gnomAD frequency: 0.15340  dbSNP: rs11052113

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001094179	SCV000378190	benign	Charcot-Marie-Tooth disease type 4H	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	RCV000518416	SCV000613274	benign	not specified	2017-07-12	criteria provided, single submitter	clinical testing
Invitae	RCV000277525	SCV001000524	benign	Charcot-Marie-Tooth disease type 4	2024-02-01	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001174108	SCV001337229	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
GeneDx	RCV001706468	SCV001863017	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing