ClinVar Miner

Variants in gene TTBK2

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
6 4 289 137 69 3 447

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 4 0 182 117 52 0 327
Spinocerebellar ataxia type 11 3 4 50 19 26 3 101
Inborn genetic diseases 0 0 94 0 0 0 94
not specified 0 0 12 14 26 0 50
TTBK2-related disorder 0 0 1 8 3 0 12
Autosomal dominant cerebellar ataxia 0 0 1 2 0 0 3
Spastic ataxia 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 108 77 25 0 210
Athena Diagnostics 2 0 44 20 30 0 96
Ambry Genetics 0 0 94 0 0 0 94
Illumina Laboratory Services, Illumina 0 0 38 19 25 0 82
GeneDx 0 0 33 16 26 0 75
CeGaT Center for Human Genetics Tuebingen 1 0 18 19 2 0 40
Breakthrough Genomics, Breakthrough Genomics 0 0 2 11 20 0 33
PreventionGenetics, part of Exact Sciences 0 0 1 8 3 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 5 1 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 2 0 0 6
Genetic Services Laboratory, University of Chicago 1 0 0 2 0 0 3
Eurofins Ntd Llc (ga) 0 0 1 0 2 0 3
GeneReviews 0 0 0 0 0 3 3
OMIM 2 0 0 0 0 0 2
Revvity Omics, Revvity 0 1 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Codex Genetics Limited 2 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 1 0 2
Baylor Genetics 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
O&I group, Department of Genetics, University Medical Center of Groningen 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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