ClinVar Miner

Variants in gene combination ASTN2, TRIM32

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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
65 37 472 277 14 1 2 794

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Bardet-Biedl syndrome 50 3 267 241 6 0 0 566
not provided 10 10 177 22 10 0 1 220
TRIM32-related disorder 2 4 100 60 0 0 0 166
Sarcotubular myopathy; Bardet-Biedl syndrome 11 0 22 120 10 0 0 1 150
Sarcotubular myopathy 7 2 68 0 6 0 0 82
Bardet-Biedl syndrome 11 2 2 60 3 6 0 0 73
Inborn genetic diseases 0 0 49 0 0 0 0 49
not specified 1 0 11 20 2 0 0 32
Autosomal recessive limb-girdle muscular dystrophy 3 3 0 0 0 0 0 6
Retinal dystrophy 1 0 4 0 0 0 0 5
See cases 0 0 2 3 0 0 0 5
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: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 50 1 265 243 6 0 0 565
PreventionGenetics, part of Exact Sciences 2 4 100 63 1 0 0 170
Fulgent Genetics, Fulgent Genetics 0 22 116 10 0 0 0 148
Eurofins Ntd Llc (ga) 4 3 86 2 2 0 0 97
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 21 24 6 0 0 53
Ambry Genetics 0 0 49 0 0 0 0 49
CeGaT Center for Human Genetics Tuebingen 2 1 9 10 2 0 0 24
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 17 0 0 0 0 17
Athena Diagnostics 0 0 10 3 1 0 0 14
Breakthrough Genomics, Breakthrough Genomics 0 0 4 0 6 0 0 10
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 8 0 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 3 1 1 0 0 0 9
Bionano Laboratories 0 0 9 0 0 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 0 0 9 0 0 0 0 9
OMIM 6 0 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 1 0 1 3 0 0 0 5
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 1 0 4 0 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 1 0 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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 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

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