Variants studied for Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73

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	total
95	28	282	552	24	977

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
HGSNAT	88	25	256	484	21	870
HGSNAT, LOC130000316	6	3	21	68	3	101
HGSNAT, POMK	1	0	2	0	0	3
FNTA, HGSNAT, POMK, POTEA	0	0	1	0	0	1
HGSNAT, LOC121740716, LOC130000316, LOC130000317, LOC130000318, LOC130000319, LOC130000320, LOC130000321, POMK	0	0	1	0	0	1
HGSNAT, POTEA	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 2

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	95	26	279	550	24	974
Fulgent Genetics, Fulgent Genetics	8	2	11	3	0	24

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