ClinVar Miner

Variants studied for proximal spinal muscular atrophy

Included ClinVar conditions (20):
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
88 60 468 434 77 15 1109

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BICD2 14 19 298 341 53 3 710
CHCHD10 3 2 103 69 12 1 186
DYNC1H1 11 20 41 16 9 9 102
SMN1 55 17 16 5 0 1 89
SMN2 0 1 2 2 0 1 4
IGHMBP2 1 1 1 0 0 0 3
C22orf15, CHCHD10 0 0 2 0 0 0 2
DYNC1H1, LOC126862060 0 0 1 0 1 0 2
LOC130067862, SCO2, TYMP 0 0 0 0 2 0 2
​intergenic 1 0 0 0 0 0 1
ASPN, BICD2, CENPP, ECM2, IARS1, IPPK, NOL8, OGN, OMD, PRSS47, SPTLC1 0 0 1 0 0 0 1
DYNC1H1, LOC130056502 1 0 0 0 0 0 1
FBLN5 0 0 1 0 0 0 1
SETX 0 0 1 0 0 0 1
SMN, SMN1 1 0 0 0 0 0 1
SMN1, SMN2 0 0 0 1 0 0 1
SPG7 0 0 1 0 0 0 1
VRK1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 16 10 389 413 59 0 887
OMIM 36 0 0 0 0 0 36
Fulgent Genetics, Fulgent Genetics 1 1 13 16 0 0 31
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 14 1 0 0 15
Genome-Nilou Lab 0 0 0 0 15 0 15
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 8 3 2 0 0 0 13
Mendelics 2 4 1 0 5 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 1 3 2 0 0 12
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 7 2 2 0 0 0 11
Baylor Genetics 0 2 6 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 5 0 0 0 0 8
Département de Neurologie, Hospices Civils de Lyon 0 7 1 0 0 0 8
3billion 1 2 3 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Institute of Human Genetics, Cologne University 1 1 3 0 0 0 5
MGZ Medical Genetics Center 2 1 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
New York Genome Center 0 1 3 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 4 4
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 4 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Illumina Laboratory Services, Illumina 1 0 2 0 0 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 2 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Natera, Inc. 0 0 0 0 2 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 0 2
DASA 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Neurogenetics, Cyprus Institute of Neurology and Genetics 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Counsyl 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Molecular Neurogenomics lab, VIB Department of Molecular Genetics; University of Antwerp 1 0 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague 1 0 0 0 0 0 1
School of Bio-Medicine, Mongolian National University of Medical Sciences 0 1 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 1 0 0 0 0 0 1
Suma Genomics 0 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Children's Services, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Department of Medical Genetics, Capital Institute of Pediatrics 1 0 0 0 0 0 1

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