ClinVar Miner

Variants in gene ITPR1

Minimum submission review status: Collection method:
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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 not provided total
27 18 176 119 122 1 396

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Spinocerebellar Ataxia, Dominant 0 0 103 34 80 0 217
not provided 6 13 50 78 61 0 188
not specified 0 0 15 14 29 0 58
Spinocerebellar ataxia type 29 8 2 3 7 2 0 21
Gillespie syndrome 14 1 0 0 0 0 14
Inborn genetic diseases 4 1 6 0 0 0 11
Spinocerebellar ataxia type 16 2 0 1 0 0 0 3
Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 16; Gillespie syndrome 0 1 2 0 0 0 3
Behavioral abnormality; Slurred speech; Progressive gait ataxia; Movement disorder 0 0 1 0 0 0 1
Cerebellar ataxia 0 0 1 0 0 0 1
ITPR1-associated cerebellar ataxia spectrum disorder 1 0 0 0 0 0 1
ITPR1-related syndromic and non-syndromic hereditary ataxias 0 0 1 0 0 0 1
Spinocerebellar ataxia type 15/16 0 1 0 0 0 0 1
Spinocerebellar ataxia type 29; Gillespie syndrome; Spinocerebellar ataxia type 15/16 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 104 34 80 0 218
Invitae 1 0 1 69 39 0 110
Athena Diagnostics Inc 0 1 32 8 51 0 92
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 18 1 0 0 23
OMIM 13 0 0 0 0 0 13
GeneDx 2 6 4 1 0 0 13
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 5 4 3 0 13
Schule lab,Hertie Institute for Clinical Brain Research 6 0 0 7 0 0 13
Ambry Genetics 4 1 6 0 0 0 11
Genetic Services Laboratory, University of Chicago 0 0 3 7 0 0 10
Mendelics 0 0 1 0 2 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 3 0 0 3
Baylor Genetics 0 1 1 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Lineagen, Inc 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Research Group Niklas Dahl,Uppsala University 1 0 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory of Molecular Pathology,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 1

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