ClinVar Miner

Variants studied for Niemann-Pick disease type A

Included ClinVar conditions (2):
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
199 226 167 418 44 1 910

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
SMPD1 186 219 159 397 42 1 869
LOC130005193, SMPD1 11 7 8 21 2 0 39
APBB1, SMPD1 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 159 72 80 396 40 0 747
Baylor Genetics 57 48 4 0 0 0 109
Counsyl 6 62 32 2 0 0 102
Natera, Inc. 28 4 14 26 20 0 92
Illumina Laboratory Services, Illumina 1 0 46 9 13 0 69
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 13 27 1 0 0 0 41
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 18 16 0 0 0 0 34
Fulgent Genetics, Fulgent Genetics 9 5 10 1 1 0 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 3 0 0 0 0 18
Myriad Genetics, Inc. 4 8 4 0 0 0 16
Genome-Nilou Lab 0 2 5 1 6 0 14
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 8 4 0 0 0 0 12
OMIM 9 0 0 0 0 0 9
Laboratory of Metabolic Disorders, Peking University First Hospital 7 0 0 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 3 0 0 0 6
Centogene AG - the Rare Disease Company 5 0 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 4 1 0 0 0 5
3billion 2 0 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 0 3
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Mendelics 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Manipal Hospitals, Manipal Hospital 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Genetics Laboratory, University of Sistan and Baluchestan 0 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 1 0 0 0 1

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