Variants studied for 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	not provided	total
23	9	90	11	26	20	173

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
GNPTAB	23	9	89	11	23	20	169
GNPTAB, LOC130008555	0	0	1	0	2	0	3
GNPTAB, LOC124646390	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 23

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	79	10	20	0	109
GeneReviews	9	0	0	0	0	20	29
Genome-Nilou Lab	0	0	8	0	11	0	19
OMIM	8	0	0	0	0	0	8
Counsyl	1	2	0	0	0	0	3
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela	3	0	0	0	0	0	3
Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center	0	3	0	0	0	0	3
MGZ Medical Genetics Center	1	1	0	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	1	0	0	0	2
Baylor Genetics	0	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	0	0	1
Yale Center for Mendelian Genomics, Yale University	1	0	0	0	0	0	1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	1	0	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	0	1	0	0	1
Myriad Genetics, Inc.	1	0	0	0	0	0	1
Lifecell International Pvt. Ltd	1	0	0	0	0	0	1
3billion	0	0	1	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	1	0	0	0	0	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	1	0	0	0	0	0	1

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