ClinVar Miner

Variants in gene ITPR1

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 not provided total
25 15 115 84 45 1 250

Condition and significance breakdown #

Total conditions: 12
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Spinocerebellar Ataxia, Dominant 0 0 67 67 9 0 143
not specified 0 0 14 14 29 0 57
not provided 2 10 25 5 8 0 48
Spinocerebellar ataxia 29 8 2 2 7 0 0 18
Gillespie syndrome 13 1 0 0 0 0 13
Inborn genetic diseases 4 1 6 0 0 0 11
Spinocerebellar ataxia 15 2 0 1 0 0 0 3
Spinocerebellar ataxia 29; Spinocerebellar ataxia 15; Gillespie syndrome 0 0 2 0 0 0 2
Behavioral abnormality; Slurred speech; Progressive gait ataxia; Abnormality of movement 0 0 1 0 0 0 1
ITPR1-associated cerebellar ataxia spectrum disorder 1 0 0 0 0 0 1
Spinocerebellar ataxia 29; Gillespie syndrome; Spinocerebellar ataxia type 15/16 0 0 0 0 0 1 1
Spinocerebellar ataxia type 15/16 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 67 67 9 0 143
Athena Diagnostics Inc 0 1 21 4 34 0 60
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 0 0 0 5
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
Fulgent Genetics 0 0 2 0 0 0 2
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 0 1
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
GeneReviews 1 0 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 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
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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.