ClinVar Miner

Variants in gene SACS

See also:
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
175 248 650 571 92 1 4 1490

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Spastic paraplegia 99 9 173 482 64 0 0 827
Charlevoix-Saguenay spastic ataxia 71 218 393 67 30 1 2 716
not provided 35 21 188 100 41 0 2 363
not specified 0 0 39 31 48 0 0 105
Inborn genetic diseases 4 0 1 0 0 0 0 5
Hereditary spastic paraplegia 0 1 3 0 0 0 0 4
Autosomal recessive spastic ataxia 2 1 0 0 0 0 0 3
Abnormality of brain morphology 0 2 0 0 0 0 0 2
Hereditary ataxia 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 98 7 173 514 64 0 0 856
Counsyl 8 203 61 3 2 0 0 277
Illumina Clinical Services Laboratory,Illumina 0 0 233 18 1 0 0 252
Athena Diagnostics Inc 10 7 137 35 61 0 0 250
Natera, Inc. 2 0 102 44 24 0 0 172
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 1 33 8 8 0 0 54
CeGaT Praxis fuer Humangenetik Tuebingen 4 2 31 8 0 0 0 45
GeneDx 10 9 15 1 0 0 0 35
Mayo Clinic Laboratories, Mayo Clinic 0 0 14 4 16 0 0 34
PreventionGenetics, PreventionGenetics 0 0 0 9 16 0 0 25
Paris Brain Institute,Inserm - ICM 22 0 0 0 0 0 0 22
Baylor Genetics 5 1 14 0 0 0 0 20
Genetic Services Laboratory, University of Chicago 3 1 5 9 1 0 0 19
Fulgent Genetics,Fulgent Genetics 2 0 12 0 0 0 0 14
OMIM 11 0 0 0 0 0 0 11
Integrated Genetics/Laboratory Corporation of America 7 2 0 0 2 0 0 11
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 7 0 1 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 0 0 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 1 5 0 0 7
Ambry Genetics 4 0 1 0 0 0 0 5
Mendelics 1 3 0 1 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 3 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 2 0 0 0 0 0 4
GeneReviews 4 0 0 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
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 2 2 0 0 0 0 0 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 4 0 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 0 0 0 0 0 3
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 2 0 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 2 2
Institute of Human Genetics, Klinikum rechts der Isar 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
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
GenomeConnect, ClinGen 0 0 0 0 0 0 2 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
Pars Genome Lab 0 0 1 1 0 0 0 2
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Codex Genetics Limited 0 1 0 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 0 1
CMT Laboratory,Bogazici University 1 0 0 0 0 0 0 1

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