Variants studied for GNPTG-mucolipidosis

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
24	36	146	33	7	14	223

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
GNPTG	24	32	109	26	6	14	179
GNPTG, LOC130058158	0	4	33	7	0	0	39
GNPTG, UNKL	0	0	4	0	1	0	5

Submitter and significance breakdown #

Total submitters: 21

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Natera, Inc.	5	2	84	15	6	0	112
Illumina Laboratory Services, Illumina	0	0	43	5	2	0	50
Counsyl	3	16	26	0	0	0	45
Genome-Nilou Lab	6	3	13	16	3	0	41
GeneReviews	3	0	0	0	0	14	17
OMIM	9	0	0	0	0	0	9
Myriad Genetics, Inc.	0	8	1	0	0	0	9
Fulgent Genetics, Fulgent Genetics	0	3	4	1	0	0	8
Revvity Omics, Revvity	2	1	1	0	0	0	4
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	4	0	0	0	0	4
Neuberg Centre For Genomic Medicine, NCGM	1	0	3	0	0	0	4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	1	0	0	1	0	0	2
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre	1	1	0	0	0	0	2
3billion	2	0	0	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	0	0	0	0	2
Mendelics	1	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	0	1	0	0	0	1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University	0	0	1	0	0	0	1

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