ClinVar Miner

Variants studied for mucosulfatidosis

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
100 62 225 353 38 6 730

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 85 57 185 306 31 6 623
LOC129936056, SUMF1 14 5 36 47 7 0 102
EGOT, ITPR1, SUMF1 0 0 2 0 0 0 2
ITPR1, SUMF1 0 0 2 0 0 0 2
SUMF2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 88 27 160 340 17 0 632
Illumina Laboratory Services, Illumina 0 0 55 6 24 0 85
Natera, Inc. 4 4 14 15 8 0 45
Fulgent Genetics, Fulgent Genetics 7 21 5 0 0 0 33
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 6 10 0 0 0 0 16
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 Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
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, Medical Genetics 0 0 1 0 0 0 1

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