Variants studied for alpha-N-acetylgalactosaminidase deficiency type 3

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
27	12	83	195	21	1	323

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
NAGA	18	7	51	89	16	0	175
LOC126863160, NAGA	9	5	29	104	4	1	142
LOC130067582, NAGA	0	0	3	1	0	0	4
NAGA, WBP2NL	0	0	0	1	1	0	2

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	26	8	48	190	9	0	281
Illumina Laboratory Services, Illumina	0	0	39	6	16	0	61
Fulgent Genetics, Fulgent Genetics	0	3	1	0	0	0	4
OMIM	2	0	0	0	0	0	2
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	2	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	1	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	0	1
Centogene AG - the Rare Disease Company	1	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	0	1

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