ClinVar Miner

Variants studied for aceruloplasminemia

Included ClinVar conditions (1):
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
69 6 235 160 49 2 481

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CP 69 6 222 149 43 2 453
CP, HPS3 0 0 13 11 6 0 28

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 3 179 140 44 0 391
Illumina Laboratory Services, Illumina 0 0 68 20 19 0 107
GeneReviews 41 0 0 0 0 2 43
Fulgent Genetics, Fulgent Genetics 0 0 11 3 0 0 14
OMIM 6 0 0 0 0 0 6
Revvity Omics, Revvity 2 0 3 0 0 0 5
Dept of Medicine and Surgery, University of Milano-Bicocca 5 0 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 1 0 4
Mendelics 1 0 1 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
GenePathDx, GenePath diagnostics 0 1 0 1 0 0 2
Hemoglobin and Genome Lab, University of Campinas 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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