ClinVar Miner

Variants in gene SMPD1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
60 71 151 31 27 1 294

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 22 6 96 5 14 1 142
Niemann-Pick disease, type A 27 62 37 2 0 0 125
not specified 9 6 6 13 22 0 51
Sphingomyelin/cholesterol lipidosis 11 0 25 11 3 0 50
Niemann-Pick disease, type B; Niemann-Pick disease, type A 5 5 5 4 8 0 27
Niemann-Pick disease, type B 19 2 0 0 0 0 21
Niemann-pick disease, intermediate, protracted neurovisceral 2 0 0 0 0 0 2
Ceroid lipofuscinosis neuronal 6 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 27 3 92 8 20 0 150
Counsyl 12 60 33 2 0 0 107
Illumina Clinical Services Laboratory,Illumina 1 0 29 11 1 0 42
Integrated Genetics/Laboratory Corporation of America 15 7 4 1 10 0 37
Invitae 5 4 5 4 8 0 26
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 6 3 11 0 20
OMIM 17 0 0 0 0 0 17
GeneDx 6 5 1 1 0 0 13
GeneReviews 11 0 0 0 2 0 13
PreventionGenetics 0 0 0 3 6 0 9
Laboratory of Metabolic Disorders,Peking University First Hospital 7 0 0 0 0 0 7
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 0 1 2 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 1 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 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

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