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
27 10 269 70 12 1 355

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bardet-Biedl syndrome 17 0 142 45 4 0 208
not provided 6 4 113 15 3 1 138
Sarcotubular myopathy 4 0 65 0 6 0 74
Bardet-Biedl syndrome 11 2 2 58 2 6 0 70
not specified 0 0 2 20 2 0 21
See cases 0 0 7 4 0 0 11
Schizophrenia 0 3 0 0 0 0 3
Limb-Girdle Muscular Dystrophy, Recessive 0 0 2 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
Myopathy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 17 0 140 52 6 0 215
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 3 86 2 2 0 97
Illumina Clinical Services Laboratory,Illumina 0 0 61 2 6 0 67
GeneDx 0 1 9 17 2 0 29
Lineagen, Inc 0 0 9 0 0 0 9
Athena Diagnostics Inc 0 0 6 2 0 0 8
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 8 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 4 1 0 0 7
Broad Institute Rare Disease Group, Broad Institute 1 0 4 0 0 0 5
OMIM 4 0 0 0 0 0 4
Baylor Genetics 0 0 4 0 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 3 1 0 4
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 3 1 0 0 4
Department of Psychiatry,Nagoya University 0 3 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
Mendelics 1 0 0 0 1 0 2
ISCA site 1 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 2
Mayo Clinic 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
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
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1

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