ClinVar Miner

Variants in gene combination ASTN2, TRIM32

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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
11 7 154 30 5 1 190

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 5 4 96 1 1 1 107
Bardet-Biedl syndrome 4 0 79 9 3 0 94
Limb-Girdle Muscular Dystrophy, Recessive 0 0 29 3 1 0 33
not specified 0 0 2 20 2 0 21
See cases 0 0 7 4 0 0 11
Sarcotubular myopathy 2 0 1 0 0 0 3
Bardet-Biedl syndrome 11 1 1 0 0 0 0 2
Sarcotubular myopathy; Bardet-Biedl syndrome 11 0 0 2 0 0 0 2
Elevated serum creatine phosphokinase 1 0 0 0 0 0 1
Limb-girdle muscular dystrophy 0 1 0 0 0 0 1
Muscular Diseases 1 0 0 0 0 0 1
Schizophrenia 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 3 86 2 2 0 97
Invitae 4 0 50 6 2 0 62
Illumina Clinical Services Laboratory,Illumina 0 0 29 3 1 0 33
GeneDx 0 1 9 17 2 0 29
Athena Diagnostics Inc 0 0 4 1 0 0 5
PreventionGenetics 0 0 0 3 1 0 4
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 3 1 0 0 4
OMIM 3 0 0 0 0 0 3
ISCA site 6 0 0 0 3 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 0 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 1 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
ISCA site 1 0 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 1 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Department of Psychiatry,Nagoya University 0 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
ISCA site 4 0 0 1 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1

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