ClinVar Miner

Variants in gene VPS13A

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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 not provided total
281 105 560 2051 306 1 3135

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 264 81 324 2021 287 0 2924
Chorea-acanthocytosis 37 28 215 92 105 1 433
Inborn genetic diseases 0 0 95 13 0 0 108
VPS13A-related condition 1 1 0 33 7 0 42
not specified 0 0 11 2 23 0 36
Abnormality of the nervous system 0 1 0 0 0 0 1
Breast ductal adenocarcinoma 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Vascular dementia 0 0 1 0 0 0 1
primray hypomagnesemia with secondary hypocalcemia 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 261 77 261 1859 132 0 2590
GeneDx 9 2 43 153 179 0 386
Illumina Laboratory Services, Illumina 0 0 148 21 50 0 219
Natera, Inc. 11 5 55 57 58 0 186
Ambry Genetics 0 0 95 13 0 0 108
Athena Diagnostics Inc 2 0 26 11 17 0 56
CeGaT Center for Human Genetics Tuebingen 1 0 17 28 9 0 55
PreventionGenetics, part of Exact Sciences 1 1 0 33 7 0 42
Genome-Nilou Lab 0 0 3 2 33 0 38
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 20 14 0 34
Fulgent Genetics, Fulgent Genetics 4 5 7 7 2 0 25
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 18 6 0 25
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 18 4 0 23
Revvity Omics, Revvity 3 8 6 0 0 0 17
OMIM 9 0 0 0 0 0 9
Baylor Genetics 1 1 5 0 0 0 7
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 4 1 0 0 0 7
Counsyl 0 0 3 2 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 3 0 1 0 5
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 4 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 3 0 0 0 4
Department of Genetics and Molecular Medicine, Faculty of Medicine, Zanjan University of Medical Sciences 4 0 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 1 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 2 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education 1 1 0 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 0 0 0 1
Myllykangas group, University of Helsinki 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Functional Genomic Platform, Centre National pour la Recherche Scientifique et Technique 1 0 0 0 0 0 1
MK Azim Lab, Mohammad Ali Jinnah University 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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