ClinVar Miner

Variants studied for Oculocutaneous albinism type 4

Coded as:
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
18 6 41 2 3 3 71

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
SLC45A2 18 6 40 2 3 3 70
MITF 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 38 2 1 0 42
OMIM 7 0 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 4
GeneReviews 0 0 0 0 0 3 3
Center of Medical Genetics, Central South University 0 2 1 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Science and Research Branch, Islamic Azad University, Islamic Azad University 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1

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