ClinVar Miner

Variants in gene TBC1D24

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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
40 16 212 118 38 2 362

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myoclonic epilepsy, familial infantile 4 2 95 20 3 0 124
not specified 0 0 26 79 34 0 117
Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 5 1 45 31 16 0 98
not provided 12 11 64 4 2 1 93
Seizures 0 0 17 15 5 0 37
DOORS syndrome 10 0 0 0 0 0 10
Deafness, autosomal recessive 86 4 0 2 0 0 1 7
Early infantile epileptic encephalopathy 16 3 1 1 0 0 0 5
DOORS syndrome; Myoclonic epilepsy, familial infantile; Deafness, autosomal recessive 86; Early infantile epileptic encephalopathy 16; Deafness, autosomal dominant 65 0 0 3 0 0 0 3
Deafness, autosomal dominant 65 2 1 0 0 0 0 3
Inborn genetic diseases 1 0 2 0 0 0 3
Parkinsonism 2 0 0 0 0 0 2
Autosomal dominant epilepsy 1 0 0 0 0 0 1
DOORS syndrome; Myoclonic epilepsy, familial infantile; Early infantile epileptic encephalopathy 16 0 1 0 0 0 0 1
Epileptic encephalopathy, early infantile, 1 0 0 1 0 0 0 1
Intellectual disability; Periodic paralysis; Neurodevelopmental delay 1 0 0 0 0 0 1
Myoclonic epilepsy, familial infantile; Early infantile epileptic encephalopathy 16 0 0 1 0 0 0 1
Progressive myoclonus epilepsy with ataxia 1 0 0 0 0 0 1
Rare genetic deafness 0 1 0 0 0 0 1
Rolandic epilepsy 1 0 0 0 0 0 1
developmental delay with seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 11 11 40 55 27 0 144
Illumina Clinical Services Laboratory,Illumina 0 0 95 20 3 0 118
Invitae 5 1 45 31 16 0 98
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 14 22 18 0 55
Ambry Genetics 1 0 19 15 5 0 40
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 20 2 9 0 33
Genetic Services Laboratory, University of Chicago 0 2 8 9 0 0 19
Division of Medical Genetics; Sainte-Justine Hospital 18 0 0 0 0 0 18
OMIM 14 0 0 0 0 0 14
Athena Diagnostics Inc 0 0 5 5 2 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 1 0 0 9
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 8 0 0 0 0 0 8
PreventionGenetics 0 0 0 0 4 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 3 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 2
Fulgent Genetics 0 0 2 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 2 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Molecular Biology of Hearing and Deafness Laboratory, Xinhua Hospital 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 0 1
Genetics,Medical University of Vienna 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 0 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1

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