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
186 31 257 57 15 536

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 184 30 230 55 15 504
LPAR6, RB1 2 0 10 2 0 14
PTCH1 0 0 3 0 0 3
BRCA2 0 0 2 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: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 105 21 186 22 2 336
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
Mendelics 4 1 26 10 12 53
Clinical Genomics Lab,St. Jude Children's Research Hospital 9 1 18 0 0 28
OMIM 25 0 0 0 0 25
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1

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