ClinVar Miner

Variants in gene NBAS

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
196 148 1180 1370 207 52 2888

Condition and significance breakdown #

Total conditions: 44
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 170 76 896 1338 204 0 2611
Inborn genetic diseases 0 0 374 18 0 0 392
NBAS-related disorder 2 5 17 58 5 0 87
not specified 2 0 39 13 32 0 85
Infantile liver failure syndrome 2 23 20 17 1 14 0 69
Short stature-optic atrophy-Pelger-Huët anomaly syndrome; Infantile liver failure syndrome 2 5 36 9 3 0 3 56
Short stature-optic atrophy-Pelger-Huët anomaly syndrome 13 7 19 0 14 0 51
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 17 18 0 0 0 0 35
Retinal dystrophy 1 0 10 0 0 0 11
Ovarian serous cystadenocarcinoma 0 0 0 0 0 9 9
Lung cancer 0 0 0 0 0 8 8
Uterine corpus endometrial carcinoma 0 0 0 0 0 7 7
Acute myeloid leukemia 0 0 0 0 0 6 6
Malignant tumor of esophagus 0 0 0 0 0 6 6
Optic atrophy 0 0 6 0 0 0 6
Monogenic short statue 1 2 2 0 0 0 5
Cervical cancer 0 0 0 0 0 4 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Uterine carcinosarcoma 0 0 0 0 0 4 4
Gastric cancer 0 0 0 0 0 3 3
Infantile liver failure 2 1 0 0 0 0 3
Retinal disorder 1 1 1 0 0 0 3
Cholangiocarcinoma 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
Growth failure in early childhood 0 0 2 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Leber congenital amaurosis 1 0 1 0 0 0 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Neurodevelopmental disorder 1 0 1 0 0 0 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Optic neuropathy 1 1 0 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
See cases 1 1 0 0 0 0 2
Thymoma 0 0 0 0 0 2 2
Autosomal recessive NBAS-related disorders 0 1 0 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Fetal anomalies with a likely genetic cause 1 0 0 0 0 0 1
Lymphoma 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 1
Schizophrenia 0 0 1 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 82
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 163 55 823 1314 100 0 2455
Ambry Genetics 0 0 374 18 0 0 392
GeneDx 8 20 34 1 120 0 183
Breakthrough Genomics, Breakthrough Genomics 0 0 9 12 77 0 98
PreventionGenetics, part of Exact Sciences 2 5 17 58 5 0 87
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 18 38 8 5 0 86
CeGaT Center for Human Genetics Tuebingen 4 3 19 36 5 0 67
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 49 49
Fulgent Genetics, Fulgent Genetics 4 32 9 3 0 0 48
Mayo Clinic Laboratories, Mayo Clinic 1 0 6 8 19 0 34
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 1 0 16 0 0 0 17
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 13 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 2 10 0 14
Genome-Nilou Lab 0 0 0 0 14 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 12 0 0 12
OMIM 12 0 0 0 0 0 12
Revvity Omics, Revvity 2 1 9 0 0 0 12
Baylor Genetics 2 2 7 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 4 7 0 0 11
Clinical Genetics, Academic Medical Center 0 0 3 4 3 0 10
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 9 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 4 1 0 0 0 9
Eurofins Ntd Llc (ga) 0 1 3 1 2 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 2 5 0 0 0 7
3billion 1 1 4 0 0 0 6
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 3 1 1 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 1 0 0 5
Illumina Laboratory Services, Illumina 1 1 3 0 0 0 5
Mendelics 0 4 0 1 0 0 5
NHS Central & South Genomic Laboratory Hub 1 2 2 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 0 1 1 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 3 0 0 4
Undiagnosed Diseases Network, NIH 1 1 2 0 0 0 4
Bionano Laboratories 1 0 2 0 0 0 3
Brain and Mitochondrial Research, Murdoch Children's Research Insitute 2 1 0 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 1 0 0 3
Laboratory of Medical Genetics, University of Torino 3 0 0 0 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 2 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 1 1 0 0 0 0 2
Dasa 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 1 0 0 0 2
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 2 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 0 2
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Laboratory of Jean-Laurent Casanova, The Rockefeller University 2 0 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 1 0 0 0 2
Synevo Romania 1 0 1 0 0 0 2
TIDEX, University of British Columbia 0 0 2 0 0 0 2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 1 0 0 0 0 2
CHU Sainte-Justine Research Center, University of Montreal 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1
Department of Pediatrics, Asahikawa Medical University 1 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1
Division of Biology and Genetics, University of Brescia 0 1 0 0 0 0 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 1
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 1 0 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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