ClinVar Miner

Variants in gene SMPD1

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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
116 126 201 118 41 1 479

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Niemann-Pick disease, type B; Niemann-Pick disease, type A 68 42 33 91 27 0 258
Niemann-Pick disease, type A 49 79 81 10 13 0 209
not provided 32 10 99 17 16 1 171
Sphingomyelin/cholesterol lipidosis 31 14 34 12 3 0 91
not specified 8 2 7 13 22 0 47
Niemann-Pick disease, type B 16 6 3 0 0 0 22
Niemann-pick disease, intermediate, protracted neurovisceral 2 0 0 0 0 0 2
none provided 0 0 1 0 1 0 2
Gaucher disease 0 0 1 0 0 0 1
Intellectual disability 1 0 0 0 0 0 1
Neuronal ceroid lipofuscinosis 6 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 52 14 31 97 27 0 221
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 25 3 92 8 20 0 148
Counsyl 10 63 35 2 0 0 110
Illumina Clinical Services Laboratory,Illumina 1 0 48 9 13 0 71
Broad Institute Rare Disease Group, Broad Institute 25 11 11 7 0 0 54
Integrated Genetics/Laboratory Corporation of America 23 8 6 1 12 0 50
Baylor Genetics 24 15 3 0 0 0 42
Huiwen Zhang's lab,Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 13 27 1 0 0 0 41
Natera, Inc. 1 1 28 5 1 0 36
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 3 11 0 20
OMIM 15 0 0 0 0 0 15
GeneDx 4 5 1 1 4 0 15
GeneReviews 9 0 0 0 2 0 11
PreventionGenetics, PreventionGenetics 0 0 0 3 6 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 5 1 2 1 0 0 9
Laboratory of Metabolic Disorders, Peking University First Hospital 7 0 0 0 0 0 7
Centogene AG - the Rare Disease Company 6 0 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 2 2 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 0 3 0 5
Fulgent Genetics,Fulgent Genetics 0 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 1 0 2
Myriad Women's Health, Inc. 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 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
Laboratorio de Medicina Genomica, Hospital General de Culiacan 1 0 0 0 0 0 1
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 1
Seelig Lab,University of Washington 0 0 0 0 0 1 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
New York Genome Center 0 0 1 0 0 0 1

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