ClinVar Miner

Variants studied for ocular melanoma

Included ClinVar conditions (5):
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 risk factor total
4 5 1 12 12 6 40

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
BAP1 3 0 0 12 12 2 29
MBD4 0 0 0 0 0 4 4
GNAQ 0 3 0 0 0 0 3
GNA11 0 2 0 0 0 0 2
PLCB4 1 0 0 0 0 0 1
TMEM127 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 12 12 0 24
OMIM 0 0 0 0 0 6 6
Database of Curated Mutations (DoCM) 0 5 0 0 0 0 5
Harbour Laboratory, University of Miami Miller School of Medicine 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1

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