ClinVar Miner

Variants in gene SACS

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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 affects not provided total
430 439 1069 2454 264 1 9 3974

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Spastic paraplegia 353 18 236 2351 225 0 0 3183
Charlevoix-Saguenay spastic ataxia 125 393 582 165 41 1 7 1144
not provided 47 36 341 117 57 0 2 552
Hereditary spastic paraplegia 10 7 88 36 13 0 0 153
Inborn genetic diseases 8 1 124 7 0 0 0 140
not specified 0 0 48 47 60 0 0 135
SACS-related condition 0 2 4 0 0 0 0 6
Abnormal central motor function 1 2 0 0 0 0 0 3
Autosomal recessive spastic ataxia 2 1 0 0 0 0 0 3
See cases 0 0 3 0 0 0 0 3
Spastic ataxia 0 0 3 0 0 0 0 3
Abnormal brain morphology 0 2 0 0 0 0 0 2
Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability 1 0 0 0 0 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 0 0 0 0 1
Hereditary ataxia 0 1 0 0 0 0 0 1
Myoepithelial tumor 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 91
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 352 16 236 2354 226 0 0 3184
Natera, Inc. 18 3 245 81 31 0 0 378
Athena Diagnostics Inc 16 11 216 45 74 0 0 362
Genome-Nilou Lab 33 26 113 95 23 0 0 290
Counsyl 8 201 60 3 1 0 0 273
Illumina Laboratory Services, Illumina 0 1 227 17 1 0 0 246
Baylor Genetics 58 129 13 0 0 0 0 200
GeneDx 14 13 61 48 31 0 0 167
Genome Diagnostics Laboratory, The Hospital for Sick Children 10 6 86 36 13 0 0 151
Ambry Genetics 8 1 124 7 0 0 0 140
CeGaT Center for Human Genetics Tuebingen 4 6 39 48 4 0 0 101
Mayo Clinic Laboratories, Mayo Clinic 0 1 53 4 15 0 0 73
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 23 18 16 6 2 0 0 65
Eurofins Ntd Llc (ga) 4 1 33 8 8 0 0 54
Revvity Omics, Revvity Omics 5 9 27 0 0 0 0 41
Fulgent Genetics, Fulgent Genetics 6 4 28 3 0 0 0 41
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 3 10 17 0 0 31
Preventiongenetics, part of Exact Sciences 0 2 4 8 15 0 0 29
Myriad Genetics, Inc. 2 24 1 0 0 0 0 27
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 2 2 17 0 0 24
Genetic Services Laboratory, University of Chicago 6 1 6 9 1 0 0 23
Paris Brain Institute, Inserm - ICM 22 0 0 0 0 0 0 22
3billion 1 10 3 0 0 0 0 14
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 11 0 2 0 0 0 0 13
OMIM 11 0 0 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 3 3 3 0 0 11
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 7 0 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 0 1 0 0 8
Medical Genetics Laboratory, Tarbiat Modares University 8 0 0 0 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 2 0 0 7
Mendelics 3 3 0 1 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 3 1 0 0 7
MGZ Medical Genetics Center 1 3 2 0 0 0 0 6
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 5 0 0 0 0 5
Pars Genome Lab 0 0 1 4 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 0 4
GeneReviews 0 0 0 0 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 0 4
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde 0 1 3 0 0 0 0 4
Kariminejad - Najmabadi Pathology & Genetics Center 1 3 0 0 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 0 0 4
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 2 2 0 0 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 4 0 0 0 0 0 0 4
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 1 3 0 0 0 0 0 4
Genomics England Pilot Project, Genomics England 0 3 1 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 2 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 0 0 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 2 0 0 0 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Broad Institute Rare Disease Group, Broad Institute 0 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 0 3
Institute of Human Genetics, University of Ulm 0 2 0 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 2 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 1 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 1 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 1 0 0 0 1 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 1
Codex Genetics Limited 0 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
CMT Laboratory, Bogazici University 1 0 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 1 0 0 0 0 0 0 1

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