Variants studied for Mucolipidosis type II; Pseudo-Hurler polydystrophy

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
201	149	191	717	46	1271

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GNPTAB	201	149	191	717	46	1271

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	200	39	177	713	46	1175
Myriad Genetics, Inc.	1	64	0	0	0	65
Counsyl	14	23	21	0	0	58
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	1	27	1	1	0	30
Fulgent Genetics, Fulgent Genetics	5	1	13	5	0	24
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	1	0	0	0	0	1

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