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 total
27 7 184 33 53 287

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Gray platelet syndrome 25 6 169 16 28 244
not provided 1 1 11 21 27 57
not specified 0 0 3 2 19 24
Abnormal bleeding; Thrombocytopenia 1 0 5 0 0 6
Thrombocytopenia 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 153 16 28 197
Invitae 0 0 0 20 27 47
NIHR Bioresource Rare Diseases, University of Cambridge 16 5 14 0 0 35
PreventionGenetics, PreventionGenetics 0 0 0 0 18 18
OMIM 7 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 2 0 3 1 1 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 5 1 0 7
Birmingham Platelet Group; University of Birmingham 1 0 5 0 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 5 0 0 5
Baylor Genetics 0 0 4 0 0 4
GeneDx 1 0 1 1 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1

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