ClinVar Miner

Variants from Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine: Collection method of the submission from Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
273 136 2 32 7 0 10 49

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 2 9 3 0 0
likely pathogenic 11 0 4 0 0
uncertain significance 0 3 0 3 2
likely benign 0 0 3 0 11
benign 0 0 0 1 0

Submitter to submitter summary #

Total submitters: 18
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Labcorp Genetics (formerly Invitae), Labcorp 0 127 0 21 3 0 7 31
Color Diagnostics, LLC DBA Color Health 0 3 0 7 4 0 0 11
All of Us Research Program, National Institutes of Health 0 5 0 3 3 0 0 6
Illumina Laboratory Services, Illumina 0 4 0 5 0 0 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 5 2 2 0 0 0 4
Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town 0 15 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 5 0 2 0 0 0 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 1 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 1 0 0 1 2
Mendelics 0 4 0 1 0 0 1 2
OMIM 0 13 0 2 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 0 1 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 14 0 0 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 11 0 1 0 0 0 1
Myriad Genetics, Inc. 0 0 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 20 0 0 0 0 1 1
Swedish National ChiCaP Initative, Genomic Medicine Sweden 0 2 0 1 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 4 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.2212-16T>A rs201258424 0.01386
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
NM_000321.3(RB1):c.1574C>G (p.Ala525Gly) rs4151539 0.00623
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00551
NM_000321.3(RB1):c.1961-12T>C rs201697122 0.00104
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00055
NM_000321.3(RB1):c.2392C>T (p.Arg798Trp) rs187912365 0.00050
NM_000321.3(RB1):c.411A>T (p.Glu137Asp) rs3092902 0.00040
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000321.3(RB1):c.940-21C>A rs559042622 0.00020
NM_000321.3(RB1):c.1306C>A (p.Gln436Lys) rs4151534 0.00013
NC_000013.11:g.48303678G>A rs576931877 0.00003
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser) rs754507551 0.00003
NM_000321.3(RB1):c.1206C>T (p.Ser402=) rs752679968 0.00001
NM_000321.3(RB1):c.1736G>A (p.Arg579Gln) rs751560923 0.00001
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln) rs374523971 0.00001
NM_000321.3(RB1):c.539C>T (p.Ser180Leu) rs367654488 0.00001
NC_000013.11:g.48303724G>T rs387906520
NM_000321.3(RB1):c.-198G>A rs387906521
NM_000321.3(RB1):c.-206_-189del rs2138025895
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1216-1G>A rs587778831
NM_000321.3(RB1):c.1345G>A (p.Gly449Arg) rs1131690851
NM_000321.3(RB1):c.137G>C (p.Arg46Thr) rs2138028088
NM_000321.3(RB1):c.1498+4A>T rs2138143230
NM_000321.3(RB1):c.1589A>G (p.Lys530Arg) rs1948534047
NM_000321.3(RB1):c.1696-12T>G rs1060503088
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu) rs137853292
NM_000321.3(RB1):c.1960+1G>T rs1949360306
NM_000321.3(RB1):c.1960G>T (p.Val654Leu) rs483352690
NM_000321.3(RB1):c.1961_1963del (p.Val654_Tyr655delinsAsp) rs2542367865
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp) rs587778834
NM_000321.3(RB1):c.1982G>C (p.Arg661Pro) rs750578651
NM_000321.3(RB1):c.2093G>C (p.Arg698Thr) rs2138336481
NM_000321.3(RB1):c.2117G>A (p.Cys706Tyr) rs121913295
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2325+5G>A rs886042249
NM_000321.3(RB1):c.2489G>A (p.Arg830Lys) rs2138346300
NM_000321.3(RB1):c.2520+5G>A rs1131690881
NM_000321.3(RB1):c.2520+5G>C rs1131690881
NM_000321.3(RB1):c.2520+5G>T rs1131690881
NM_000321.3(RB1):c.289del (p.Glu97fs) rs2542155892
NM_000321.3(RB1):c.32_63del (p.Ala11fs) rs1593411974
NM_000321.3(RB1):c.34_71del (p.Thr12fs) rs2138027150
NM_000321.3(RB1):c.373G>T (p.Glu125Ter) rs1952457111
NM_000321.3(RB1):c.608-2del rs1952624973
NM_000321.3(RB1):c.69GCC[3] (p.Pro29del) rs587778823
NM_000321.3(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000321.3(RB1):c.939G>A (p.Glu313=) rs2138116702

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