Variants studied for Multiple sulfatase deficiency

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
91	43	220	341	38	6	694

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
SUMF1	77	38	183	295	31	6	591
LOC129936056, SUMF1	13	5	34	46	7	0	99
EGOT, ITPR1, SUMF1	0	0	2	0	0	0	2
ITPR1, SUMF1	0	0	1	0	0	0	1
SUMF2	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 24

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	78	29	159	328	17	0	611
Illumina Laboratory Services, Illumina	0	0	55	6	24	0	85
Natera, Inc.	4	4	14	15	8	0	45
Genome-Nilou Lab	7	0	2	7	4	0	20
OMIM	18	0	0	0	0	0	18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	4	7	0	0	0	0	11
Fulgent Genetics, Fulgent Genetics	3	1	4	0	0	0	8
Pars Genome Lab	0	0	0	2	5	0	7
Revvity Omics, Revvity	5	1	0	0	0	0	6
GeneReviews	0	0	0	0	0	6	6
Baylor Genetics	2	1	2	0	0	0	5
Counsyl	0	4	1	0	0	0	5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	1	2	0	0	0	0	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	2	0	0	0	0	2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	1	0	1	0	0	0	2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	1	0	0	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	1	0	0	0	0	1
Children's Hospital DNA Laboratory, University Medical Center Goettingen	1	0	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	0	0	0	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	1	0	0	0	0	1
Molecular Genetics Lab, CHRU Brest	0	0	1	0	0	0	1
3billion	0	0	1	0	0	0	1

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