Variants studied for Mucolipidosis type II

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
64	17	167	32	35	64	340

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
GNPTAB	63	17	166	32	32	64	335
GNPTAB, LOC130008555	0	0	1	0	2	0	3
intergenic	1	0	0	0	0	0	1
GNPTAB, LOC124646390	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 28

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Natera, Inc.	23	4	77	20	17	0	141
Illumina Laboratory Services, Illumina	0	0	85	12	21	0	118
GeneReviews	27	0	0	0	0	64	91
Genome-Nilou Lab	1	0	9	0	11	0	21
OMIM	9	0	0	0	0	0	9
Baylor Genetics	5	0	4	0	0	0	9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	5	2	0	0	0	0	7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	5	2	0	0	0	0	7
Mendelics	1	2	0	1	0	0	4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	2	0	1	0	0	0	3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	2	1	0	0	0	0	3
3billion	2	1	0	0	0	0	3
Centogene AG - the Rare Disease Company	1	1	0	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	1	0	0	0	0	2
Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center	0	2	0	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	1	0	0	0	2
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	0	0	0	0	0	1
Institute of Human Genetics, Cologne University	0	0	1	0	0	0	1
Counsyl	1	0	0	0	0	0	1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	1	0	0	0	0	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	1	0	0	0	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
Ege University Pediatric Genetics, Ege University	0	0	1	0	0	0	1
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre	1	0	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	0	0	1

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