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
57 221 345 81 46 1 4 671

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Spastic ataxia Charlevoix-Saguenay type 36 206 180 19 7 1 2 439
not provided 14 12 102 25 23 0 2 170
Spastic paraplegia 12 1 69 22 30 0 0 134
not specified 0 0 46 32 27 0 0 92
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

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Counsyl 9 200 61 3 2 0 0 275
Invitae 12 1 69 22 30 0 0 134
Illumina Clinical Services Laboratory,Illumina 0 0 109 14 1 0 0 124
Athena Diagnostics Inc 2 2 81 24 12 0 0 121
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 1 33 8 8 0 0 54
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 14 4 16 0 0 34
GeneDx 9 8 15 0 0 0 0 32
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 2 0 12 0 0 0 0 14
OMIM 11 0 0 0 0 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 8 2 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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 1 3 0 0 5
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
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
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
Mendelics 0 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 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
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 0 1

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