Submissions for variant NM_004637.5(RAB7A):c.219C>T (p.Leu73=) (rs4548)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127682	SCV000171261	benign	not specified	2014-04-03	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.
Illumina Clinical Services Laboratory,Illumina	RCV000538645	SCV000440716	benign	Charcot-Marie-Tooth disease type 2B	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.
Invitae	RCV000538645	SCV000638305	benign	Charcot-Marie-Tooth disease type 2B	2020-12-08	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000538645	SCV000677438	benign	Charcot-Marie-Tooth disease type 2B	2017-04-25	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173973	SCV001337093	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing