ClinVar Miner

Variants in gene combination ASTN2, TRIM32

See also:
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 risk factor not provided total
59 21 424 251 14 1 2 705

Condition and significance breakdown #

Total conditions: 15
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Bardet-Biedl syndrome 45 3 262 224 6 0 0 539
not provided 10 10 172 21 7 0 1 211
Sarcotubular myopathy; Bardet-Biedl syndrome 11 0 4 73 8 0 0 1 85
Sarcotubular myopathy 6 0 68 0 6 0 0 79
TRIM32-related condition 0 3 45 31 0 0 0 79
Bardet-Biedl syndrome 11 2 2 60 3 6 0 0 73
not specified 1 0 12 20 2 0 0 33
Inborn genetic diseases 0 0 20 0 0 0 0 20
See cases 0 0 2 3 0 0 0 5
Autosomal recessive limb-girdle muscular dystrophy 2 2 0 0 0 0 0 4
Limb-Girdle Muscular Dystrophy, Recessive 0 0 2 0 0 0 0 2
Cerebral palsy 0 0 0 0 0 1 0 1
Elevated circulating creatine kinase concentration 1 0 0 0 0 0 0 1
Limb-girdle muscular dystrophy 0 1 0 0 0 0 0 1
Myopathy 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 45 1 260 226 6 0 0 538
Eurofins Ntd Llc (ga) 4 3 86 2 2 0 0 97
Fulgent Genetics, Fulgent Genetics 0 4 73 8 0 0 0 85
PreventionGenetics, part of Exact Sciences 0 3 45 34 1 0 0 83
Revvity Omics, Revvity 3 6 66 1 0 0 0 76
Illumina Laboratory Services, Illumina 0 0 61 2 6 0 0 67
GeneDx 0 2 18 24 6 0 0 50
CeGaT Center for Human Genetics Tuebingen 2 1 8 9 2 0 0 22
Ambry Genetics 0 0 20 0 0 0 0 20
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 16 0 0 0 0 16
Athena Diagnostics Inc 0 0 10 2 0 0 0 12
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 8 0 0 0 0 9
Bionano Laboratories 0 0 9 0 0 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 0 0 8 0 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 2 1 0 0 0 7
OMIM 6 0 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 1 0 1 3 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 4 0 0 0 0 5
Baylor Genetics 0 0 4 0 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 1 1 0 0 4
New York Genome Center 0 0 4 0 0 0 0 4
ISCA Site 6 0 0 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 1 0 0 2
Mendelics 1 0 0 0 1 0 0 2
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 0 0 0 2
Molecular Endocrinology Laboratory, Christian Medical College 0 0 2 0 0 0 0 2
Clinical Genetics, Academic Medical Center 0 0 1 0 0 0 0 1
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 0 1 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 0 1
ISCA site 1 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 0 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 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.