ClinVar Miner

Variants in gene NBEAL2

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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
31 28 326 92 63 1 500

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Gray platelet syndrome 27 22 179 16 31 0 274
Inborn genetic diseases 0 0 126 7 0 0 133
not provided 3 3 24 32 55 1 109
NBEAL2-related condition 1 2 5 45 8 0 61
not specified 0 0 21 15 25 0 61
Abnormal bleeding; Thrombocytopenia 1 0 5 0 0 0 6
Keratoconus 0 1 0 0 0 0 1
Thrombocytopenia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 153 16 28 0 198
Ambry Genetics 0 0 126 7 0 0 133
PreventionGenetics, part of Exact Sciences 1 2 5 45 26 0 79
Invitae 1 0 0 20 27 0 48
GeneDx 1 0 9 2 27 0 39
NIHR Bioresource Rare Diseases, University of Cambridge 16 5 14 0 0 0 35
Genetic Services Laboratory, University of Chicago 2 0 12 11 7 0 32
CeGaT Center for Human Genetics Tuebingen 0 1 9 12 1 0 23
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 1 13 6 0 0 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 9 3 0 0 12
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 10 0 0 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 2 6 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
OMIM 7 0 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 6 0 7
Birmingham Platelet Group; University of Birmingham 1 0 5 0 0 0 6
Eurofins Ntd Llc (ga) 0 0 5 0 0 0 5
Baylor Genetics 0 0 4 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 1 1 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine 1 0 0 0 0 0 1
Refractive Surgery Department, Bright Eye Hospital 0 1 0 0 0 0 1

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