Variants studied for Charcot-Marie-Tooth disease axonal type 2V

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
155	61	340	531	20	2	1102

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
NAGLU	127	53	283	443	20	2	922
LOC130060903, NAGLU	28	8	56	88	0	0	179
COASY, HSD17B1, MLX, NAGLU, PSMC3IP	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	154	59	338	531	19	0	1101
Fulgent Genetics, Fulgent Genetics	8	1	8	0	0	0	17
Genome-Nilou Lab	0	0	1	0	3	0	4
OMIM	1	0	0	0	0	0	1
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	0	0	0	0	1	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo	0	0	1	0	0	0	1

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