ClinVar Miner

Variants in gene SACS

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
488 717 1682 2557 272 1 57 4834

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Spastic paraplegia 381 20 251 2430 228 0 0 3310
Charlevoix-Saguenay spastic ataxia 172 667 860 153 41 1 7 1694
not provided 59 58 495 207 56 0 2 811
Inborn genetic diseases 10 1 434 19 0 0 0 464
not specified 0 0 89 78 87 0 0 219
Hereditary spastic paraplegia 10 8 87 36 13 0 0 153
SACS-related disorder 3 4 16 44 9 0 0 76
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 31 31
See cases 1 0 4 0 0 0 0 5
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 5 5
Autosomal recessive spastic ataxia 2 2 0 0 0 0 0 4
Intellectual disability 0 0 4 0 0 0 0 4
Abnormal central motor function 1 2 0 0 0 0 0 3
Hereditary ataxia 0 3 0 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
Acute myeloid leukemia 0 0 0 0 0 0 2 2
Cervical cancer 0 0 0 0 0 0 2 2
Charcot-Marie-Tooth disease 0 2 0 0 0 0 0 2
Colorectal cancer 0 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 0 2 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
Cholangiocarcinoma 0 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 0 1 1
Lung cancer 0 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 0 1 1
Myoepithelial tumor 0 0 1 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 109
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Labcorp Genetics (formerly Invitae), Labcorp 380 18 251 2433 228 0 0 3310
Natera, Inc. 29 140 484 82 31 0 0 766
Ambry Genetics 10 1 434 19 0 0 0 464
Athena Diagnostics 21 14 269 67 85 0 0 456
Genome-Nilou Lab 33 26 113 95 23 0 0 290
Counsyl 8 201 60 3 1 0 0 273
Baylor Genetics 64 168 13 0 0 0 0 245
Mayo Clinic Laboratories, Mayo Clinic 4 6 132 49 44 0 0 235
Illumina Laboratory Services, Illumina 0 1 218 4 0 0 0 223
GeneDx 16 26 98 48 31 0 0 219
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 52 98 16 0 0 0 0 166
CeGaT Center for Human Genetics Tuebingen 6 7 52 81 5 0 0 151
Genome Diagnostics Laboratory, The Hospital for Sick Children 10 7 85 36 13 0 0 151
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 40 19 57 29 3 0 0 148
Fulgent Genetics, Fulgent Genetics 18 73 36 3 0 0 0 130
PreventionGenetics, part of Exact Sciences 3 4 16 50 24 0 0 97
Eurofins Ntd Llc (ga) 4 1 33 8 8 0 0 54
Revvity Omics, Revvity 7 12 32 0 0 0 0 51
Breakthrough Genomics, Breakthrough Genomics 0 1 6 33 10 0 0 50
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 48 48
Myriad Genetics, Inc. 19 25 0 0 0 0 0 44
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 3 10 17 0 0 31
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 21 1 2 0 0 25
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 5 12 4 0 0 0 0 21
Kariminejad - Najmabadi Pathology & Genetics Center 2 7 7 0 0 0 0 16
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 11 0 2 0 0 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 1 4 8 0 0 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 3 3 3 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 7 0 0 0 0 11
OMIM 11 0 0 0 0 0 0 11
Next Generation Genetic Polyclinic 2 8 0 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 3 3 0 0 0 0 9
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 4 4 0 0 0 0 8
Medical Genetics Laboratory, Tarbiat Modares University 8 0 0 0 0 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 3 1 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 2 0 0 7
Mendelics 3 3 0 1 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 0 3 0 0 0 0 6
MGZ Medical Genetics Center 1 3 2 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 0 1 4 1 0 0 0 6
Variantyx, Inc. 2 4 0 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 3 0 0 0 0 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 3 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 4 1 0 0 0 0 5
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
Clinical Genetics Laboratory, Skane University Hospital Lund 1 2 1 0 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 2 0 2 0 0 0 0 4
GeneReviews 0 0 0 0 0 0 4 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 0 0 0 0 0 3
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 2 0 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 2 0 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 1 0 1 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 2 2
Daryl Scott Lab, Baylor College of Medicine 0 0 1 1 0 0 0 2
Dasa 2 0 0 0 0 0 0 2
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Ulm 0 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 0 0 1
CMT Laboratory, Bogazici University 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
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 0 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 1 0 0 0 0 0 1
Codex Genetics Limited 0 1 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 1 0 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 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
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 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
New York Genome Center 0 0 1 0 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1

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