ClinVar Miner

Variants studied for Retinoblastoma

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
156 25 217 99 41 514

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RB1 154 24 200 99 41 494
PTCH1 0 0 3 0 0 3
BRCA2 0 0 2 0 0 2
LPAR6, RB1 2 0 0 0 0 2
ALK 0 0 1 0 0 1
APC 0 0 1 0 0 1
CDKN2A 0 0 1 0 0 1
CEBPA 0 0 1 0 0 1
FANCM 0 1 0 0 0 1
MAP2K2 0 0 1 0 0 1
MAX 0 0 1 0 0 1
MUTYH 0 0 1 0 0 1
NF1 0 0 1 0 0 1
PALB2 0 0 1 0 0 1
RAF1 0 0 1 0 0 1
STK11 0 0 1 0 0 1
TSC2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 74 18 164 72 40 368
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine 65 0 2 0 0 67
Illumina Clinical Services Laboratory,Illumina 0 0 25 28 1 54
Clinical Genomics Lab,St. Jude Children's Research Hospital 9 1 18 0 0 28
OMIM 25 0 0 0 0 25
Mendelics 0 0 12 1 0 13
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 8 0 0 0 0 8
Database of Curated Mutations (DoCM) 0 6 0 0 0 6
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 2
Medical Molecular Genetics,University of Birmingham 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 2

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