Submissions for variant NM_000399.5(EGR2):c.174C>T (p.Gly58=) (rs143793213)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000235368	SCV000293636	likely benign	not provided	2021-03-15	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001094068	SCV000363340	likely benign	Charcot-Marie-Tooth disease, demyelinating, type 1d	2018-01-13	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000556157	SCV000636228	benign	Charcot-Marie-Tooth disease, type I	2020-09-10	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000235368	SCV001746935	likely benign	not provided	2021-06-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV001658081	SCV001879549	benign	not specified	2021-05-28	criteria provided, single submitter	clinical testing