ClinVar Miner

Variants studied for Niemann-Pick disease type B

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 total
178 130 95 397 40 810

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 total
SMPD1 165 130 92 377 38 773
LOC130005193, SMPD1 11 0 3 20 2 35
APBB1, SMPD1 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 159 72 80 396 40 747
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 13 27 1 0 0 41
Fulgent Genetics, Fulgent Genetics 9 5 10 1 1 26
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 2 11 0 0 0 13
Myriad Genetics, Inc. 0 8 4 0 0 12
Counsyl 6 4 1 0 0 11
Genome-Nilou Lab 1 1 4 1 4 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 3 0 0 0 8
OMIM 7 0 0 0 0 7
Centogene AG - the Rare Disease Company 6 0 1 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 0 0 0 0 5
Baylor Genetics 1 0 3 0 0 4
3billion 2 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 1 0 0 0 3
Laboratorio de Medicina Genomica, Hospital General de Culiacan 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 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 1
New York Genome Center 0 0 1 0 0 1
DASA 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 1

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