ClinVar Miner

Variants from Dunham Lab, University of Washington with conflicting interpretations

Location: United States  Primary collection method: curation
Minimum review status of the submission from Dunham Lab, University of Washington: Collection method of the submission from Dunham Lab, University of Washington:
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
182 51 0 47 5 0 27 69

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
Dunham Lab, University of Washington pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 27 7 0 0
likely pathogenic 16 0 19 2 1
uncertain significance 1 1 0 2 2
likely benign 0 0 2 0 4

Submitter to submitter summary #

Total submitters: 35
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 59 0 11 4 0 20 35
Revvity Omics, Revvity 0 26 0 14 0 0 4 18
OMIM 0 7 0 7 0 0 0 7
3billion 0 7 0 3 0 0 2 5
Mendelics 0 24 0 2 0 0 3 5
Variantyx, Inc. 0 9 0 5 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 6 0 2 0 0 2 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 2 0 1 0 0 1 2
Department of Human Genetics, Hannover Medical School 0 0 0 1 1 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 7 0 1 0 0 1 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 1 0 0 1 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 0 0 1 2
Johns Hopkins Genomics, Johns Hopkins University 0 3 0 2 0 0 0 2
Lifecell International Pvt. Ltd 0 8 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 15 0 0 0 0 2 2
Baylor Genetics 0 5 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 3 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 2 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 3 0 0 1 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 3 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 0 1 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1 0 0 0 1
MGZ Medical Genetics Center 0 3 0 1 0 0 0 1
New York Genome Center 0 2 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03179
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=) rs77214077 0.02267
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00149
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_001360016.2(G6PD):c.311G>A (p.Arg104His) rs181277621 0.00078
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00026
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00014
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) rs370918918 0.00012
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00007
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314 0.00005
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile) rs782250606 0.00005
NM_001360016.2(G6PD):c.690C>T (p.Ile230=) rs781917123 0.00005
NM_001360016.2(G6PD):c.697G>A (p.Val233Ile) rs781948754 0.00005
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000402.4(G6PD):c.944G>A (p.Arg315His) rs74575103 0.00002
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys) rs782090947 0.00002
NM_001360016.2(G6PD):c.634A>G (p.Met212Val) rs782754619 0.00002
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe) rs782757170 0.00002
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser) rs371489738 0.00001
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His) rs1557229572 0.00001
NM_001360016.2(G6PD):c.170G>A (p.Arg57Gln) rs1000937138 0.00001
NM_001360016.2(G6PD):c.242G>A (p.Arg81His) rs782308266 0.00001
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00001
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe) rs782315572 0.00001
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met) rs782771682 0.00001
NM_001360016.2(G6PD):c.679C>T (p.Arg227Trp) rs1557230213 0.00001
G6PD A-
G6PD NARA rs587776730
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) rs137852347
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) rs137852345
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) rs137852329
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) rs137852335
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys) rs137852323
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1451G>A (p.Arg484His) rs137852324
NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg) rs137852348
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) rs137852332
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) rs137852346
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp) rs1557229854
NM_001360016.2(G6PD):c.1139T>C (p.Ile380Thr) rs2523262863
NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu) rs1557229683
NM_001360016.2(G6PD):c.1246G>A (p.Glu416Lys) rs2523262484
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe) rs1557229599
NM_001360016.2(G6PD):c.1387C>T (p.Arg463Cys) rs1557229502
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala) rs202122673
NM_001360016.2(G6PD):c.1466C>T (p.Pro489Leu) rs2523260637
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile) rs2148332084
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala) rs199474830
NM_001360016.2(G6PD):c.196T>A (p.Phe66Ile) rs2070404146
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) rs1050829
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) rs78365220
NM_001360016.2(G6PD):c.433A>T (p.Thr145Ser) rs782264331
NM_001360016.2(G6PD):c.463C>G (p.His155Asp) rs2523270765
NM_001360016.2(G6PD):c.486-34del rs3216174
NM_001360016.2(G6PD):c.497G>A (p.Arg166His) rs2523268414
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly) rs2070375134
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) rs2148329890
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn) rs781906610

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