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
77 234 413 270 83 1 4 942

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 ataxia Charlevoix-Saguenay type 39 214 180 20 7 1 2 449
not provided 17 15 149 239 79 0 2 449
Spastic paraplegia 26 4 100 0 6 0 0 136
not specified 0 0 42 30 27 0 0 88
Hereditary spastic paraplegia 0 1 3 0 0 0 0 4
Inborn genetic diseases 3 0 1 0 0 0 0 4
Abnormality of brain morphology 0 2 0 0 0 0 0 2
Autosomal recessive spastic ataxia 2 0 0 0 0 0 0 2
Hereditary ataxia 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 25 2 100 221 64 0 0 412
Counsyl 9 203 61 3 2 0 0 278
Athena Diagnostics Inc 5 4 104 30 31 0 0 174
Illumina Clinical Services Laboratory,Illumina 0 0 109 14 1 0 0 124
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 1 33 8 8 0 0 54
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 31 3 0 0 0 36
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 14 4 16 0 0 34
GeneDx 9 8 15 1 0 0 0 33
PreventionGenetics,PreventionGenetics 0 0 0 9 16 0 0 25
Genetic Services Laboratory, University of Chicago 3 1 7 8 0 0 0 19
Fulgent Genetics,Fulgent Genetics 2 0 12 0 0 0 0 14
OMIM 11 0 0 0 0 0 0 11
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
Integrated Genetics/Laboratory Corporation of America 2 1 0 0 2 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
Baylor Genetics 3 1 0 0 0 0 0 4
Ambry Genetics 3 0 1 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 4 0 0 0 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 1 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 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
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
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
Division of Genomic Diagnostics,The 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
Codex Genetics Limited 0 1 0 0 0 0 0 1

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