Variants studied for Mucopolysaccharidosis, MPS-III-B; 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
175	93	345	557	19	1	1164

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	143	81	288	464	19	1	974
LOC130060903, NAGLU	32	12	56	93	0	0	189
COASY, HSD17B1, MLX, NAGLU, PSMC3IP	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 4

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	173	61	341	557	19	0	1151
Fulgent Genetics, Fulgent Genetics	20	37	8	0	0	0	65
Department of Pathology and Laboratory Medicine, Sinai Health System	2	1	2	0	0	0	5
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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