ClinVar Miner

Variants studied for spinal muscular atrophy

Included ClinVar conditions (88):
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
574 422 4574 4532 846 50 10622

Gene and significance breakdown #

Total genes and gene combinations: 86
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP7A 62 82 478 875 135 1 1613
DCTN1 9 3 666 552 67 3 1266
PLEKHG5 57 26 460 630 61 5 1204
IGHMBP2 125 64 469 552 57 3 1167
BICD2 17 18 333 368 53 3 770
FBXO38 2 1 389 267 30 3 687
UBA1 3 0 212 207 94 3 507
VRK1 65 38 148 258 14 1 495
SLC5A7 2 3 268 179 10 0 461
VAPB 1 0 202 93 43 0 332
DNAJB2 10 12 109 111 7 1 244
EXOSC3 31 23 66 116 10 2 224
CHCHD10 3 2 112 78 13 1 205
SEPSECS 5 32 88 8 18 0 145
SIGMAR1 9 4 55 65 7 0 139
BSCL2, HNRNPUL2-BSCL2 8 8 93 18 10 4 135
TRPV4 7 4 52 13 58 2 129
DYNC1H1 11 20 60 16 9 9 118
GARS1 9 3 36 6 40 1 93
SMN1 57 19 16 5 0 1 91
LOC126863253, UBA1 1 0 27 21 13 0 60
HSPB3 1 0 36 15 6 0 55
ASAH1 11 8 14 2 21 2 52
IGHMBP2, LOC126861245 3 4 19 25 5 0 52
HSPB1 10 8 14 2 16 0 47
HSPB8 2 2 19 3 16 0 40
TSEN54 7 9 14 1 6 1 36
LOC130001681, SIGMAR1 6 0 15 9 3 0 33
TSEN2 7 13 13 0 1 1 32
LOC126805598, PLEKHG5 1 0 12 13 5 0 29
EXOSC3, LOC130001814 2 1 3 10 1 0 16
REEP1 2 2 7 0 4 0 15
SPTAN1 5 2 2 5 0 0 14
EXOSC8 2 2 6 1 1 1 11
WARS1 3 1 4 0 3 0 10
LOC130066253, VAPB 0 0 5 2 2 0 9
ATP7A, PGK1 0 0 3 1 1 0 5
TSEN34 1 1 3 0 0 1 5
EMILIN1 2 0 2 0 0 0 4
MIR4497, TRPV4 0 0 3 1 0 0 4
SMN2 0 1 2 2 0 1 4
TSEN15 3 1 2 0 0 0 4
EXOSC8, LOC130009581 0 0 3 0 0 0 3
LOC129992330, SEPSECS 1 1 1 1 0 0 3
ATP7A, ATRX, COX7B, MAGT1, PGAM4 1 0 1 0 0 0 2
BSCL2, GNG3, HNRNPUL2-BSCL2 0 0 2 0 0 0 2
C22orf15, CHCHD10 0 0 2 0 0 0 2
CCDC138, EDAR, GCC2, LIMS1, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 2 0 0 0 2
DNAJB2, LOC129935648 1 0 0 0 1 0 2
DYNC1H1, LOC126862060 0 0 1 0 1 0 2
INE1, UBA1 0 0 2 0 0 0 2
LOC112533671, TSEN54 0 1 0 0 1 0 2
LOC130067862, SCO2, TYMP 0 0 0 0 2 0 2
PLEKHG5, TNFRSF25 0 0 1 0 1 0 2
SETX 0 0 2 0 0 0 2
TLL2 0 0 2 0 0 0 2
​intergenic 1 0 0 0 0 0 1
APCDD1L, ATP5F1E, CTSZ, EDN3, GNAS, LINC01711, MIR296, MIR298, NELFCD, NPEPL1, PRELID3B, STX16, TUBB1, VAPB, ZNF831 0 0 1 0 0 0 1
ARHGEF10 0 0 1 0 0 0 1
ARHGEF39, ARID3C, ATOSB, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CIMIP2B, CLTA, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FAM221B, FANCG, GALT, GBA2, GLIPR2, GNE, HINT2, HRCT1, IL11RA, MSMP, NPR2, OR13J1, OR2S2, PHF24, PIGO, RECK, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, SPATA31F1, SPATA31G1, STOML2, TESK1, TLN1, TMEM8B, TPM2, UNC13B, VCP 0 0 1 0 0 0 1
ARID3C, CCL19, CCL21, CCL27, CNTFR, DCTN3, DNAI1, DNAJB5, ENHO, GALT, IL11RA, PHF24, RPP25L, SIGMAR1, SPATA31F1, SPATA31G1, VCP 0 0 1 0 0 0 1
ASAH1, LOC129999939, LOC129999940 1 0 0 0 0 0 1
ASAH1, LOC129999940 1 1 0 0 0 0 1
ASPN, BICD2, CENPP, ECM2, IARS1, IPPK, NOL8, OGN, OMD, PRSS47, SPTLC1 0 0 1 0 0 0 1
ATP7A, ATRX, COX7B, MAGT1, PGAM4, PGK1 0 0 1 0 0 0 1
ATP7A, COX7B, MAGT1, PGAM4 0 0 1 0 0 0 1
CCDC138, EDAR, GCC2, LIMS1, LINC01593, LINC01594, LOC107305685, LOC112695112, LOC122817721, LOC122817722, LOC126806301, LOC126806302, LOC126806303, LOC129388897, LOC129388898, LOC129934519, LOC129934520, LOC129934521, LOC129934522, LOC129934523, LOC129934524, LOC129934525, LOC129934526, LOC129934527, LOC129934528, LOC129934529, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 1 0 0 0 1
CHMP1A 0 1 0 0 0 0 1
CLN5 0 1 0 0 0 0 1
DES, DES-LCR, DNAJB2, DNPEP, LOC120977025, LOC126806517, LOC129935649, LOC129935650, LOC129935651, LOC129935652, LOC129935653, LOC129935654, MIR153-1, PTPRN, RESP18 0 0 1 0 0 0 1
DYNC1H1, LOC130056502 1 0 0 0 0 0 1
FBLN5 0 0 1 0 0 0 1
FIG4 0 0 1 0 0 0 1
FKRP 1 0 0 0 0 0 1
KIF1B 0 0 1 0 0 0 1
LMNA 0 0 1 0 0 0 1
LOC130056407, VRK1 0 0 1 0 0 0 1
LOC130068210, UBA1 0 0 1 0 0 0 1
MORC2 0 0 1 0 0 0 1
MPZ 1 0 0 0 0 0 1
NEFL 0 0 1 0 0 0 1
PCCA 1 0 0 0 0 0 1
PNPO 1 0 0 0 0 0 1
SMN1, SMN2 0 0 0 1 0 0 1
SON 1 0 0 0 0 0 1
SPG7 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 148
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 367 93 3681 4362 541 0 9044
Illumina Laboratory Services, Illumina 3 1 515 122 321 0 962
Fulgent Genetics, Fulgent Genetics 30 101 173 51 6 0 361
OMIM 121 0 0 0 0 0 121
Natera, Inc. 4 3 78 13 20 0 118
Genome-Nilou Lab 0 0 3 2 88 0 93
Baylor Genetics 11 9 47 0 0 0 67
Myriad Genetics, Inc. 0 61 0 0 0 0 61
Inherited Neuropathy Consortium 3 0 55 0 1 0 59
Mendelics 15 9 1 0 7 0 32
Revvity Omics, Revvity 3 3 21 1 0 0 28
Neuberg Centre For Genomic Medicine, NCGM 6 3 19 0 0 0 28
3billion, Medical Genetics 3 4 5 14 0 0 26
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 4 5 3 1 0 24
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 5 11 2 0 0 20
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 20 20
MGZ Medical Genetics Center 7 5 7 0 0 0 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 9 0 0 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 4 5 8 0 0 0 17
Genetic Services Laboratory, University of Chicago 6 3 7 0 0 0 16
Institute of Human Genetics, Cologne University 6 5 5 0 0 0 16
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 3 11 0 0 0 16
Inherited Neuropathy Consortium Ii, University Of Miami 1 0 15 0 0 0 16
GeneReviews 1 0 0 0 0 14 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 14 1 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 14 0 14
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 8 3 2 0 0 0 13
GenomeConnect, ClinGen 0 0 0 0 0 12 12
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 2 5 0 1 0 12
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 7 2 2 0 0 0 11
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 7 2 2 0 0 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 4 3 4 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 5 0 0 0 10
Medical Affairs, Dicerna Pharmaceuticals 9 1 0 0 0 0 10
New York Genome Center 1 2 6 0 0 0 9
Département de Neurologie, Hospices Civils de Lyon 0 7 1 0 0 0 8
Institute of Human Genetics, University of Goettingen 0 4 3 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 2 1 0 7
Biochimie - Maladies Neurologiques Hereditaires, Hospices Civils de Lyon 1 5 1 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 2 0 0 0 0 6
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 6 0 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 4 0 0 0 0 6
Service de Pédiatrie - Neurologie et infectiologie - Toulouse, CHU de Toulouse - Hôpital des Enfants 0 3 3 0 0 0 6
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 5 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 1 1 3 0 1 0 6
Solve-RD Consortium 0 6 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 0 0 0 0 5
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 3 2 0 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 5 0 0 0 5
Genesis Genome Database 0 0 5 0 0 0 5
Suma Genomics 2 1 1 1 0 0 5
DASA 4 1 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 2 1 0 0 0 5
Athena Diagnostics 0 0 0 0 4 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 1 0 0 0 4
Undiagnosed Diseases Network, NIH 2 1 1 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 2 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 4 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 1 1 0 3
Centogene AG - the Rare Disease Company 1 2 0 0 0 0 3
Department of Medical Genetics, Oslo University Hospital 0 3 0 0 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 1 2 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 2 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 1 0 0 0 3
Genomics England Pilot Project, Genomics England 0 3 0 0 0 0 3
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 2 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Counsyl 1 0 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 2 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 1 0 0 0 2
Care4Rare-SOLVE, CHEO 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 0 2
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 0 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 1 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 1 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 2
Clinical Genetics, University of Leipzig 1 1 0 0 0 0 2
Center for Biomedical Information, Shanghai Children’s Hospital 0 0 2 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 2 0 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Paris Brain Institute, Inserm - ICM 2 0 0 0 0 0 2
Medical Genetics Laboratory, University of Catania 0 2 0 0 0 0 2
Chongqing Key Laboratory of Neurology, First Affiliated Hospital of Chongqing Medical University 1 1 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 2 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Neurogenetics, Cyprus Institute of Neurology and Genetics 1 0 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 0 0 1 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 1 0 0 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
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 0 1 0 0 0 0 1
Laboratory of Applied Genomics, Kongju National University 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Paisan-Ruiz Laboratory, Icahn School of Medicine at Mount Sinai 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 1
Children's Hospital of Soochow University, Soochow University 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Department of Neurology, Hospital Garcia de Orta 0 1 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 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
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
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 1
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 0 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 0 1 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
School of Bio-Medicine, Mongolian National University of Medical Sciences 0 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 0 1
Clinical Genetics, CHU Rennes 1 0 0 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
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocio 1 0 0 0 0 0 1
Children's Services, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1
Department of Medical Genetics, Capital Institute of Pediatrics 1 0 0 0 0 0 1

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