ClinVar Miner

Variants from Yale Center for Mendelian Genomics,Yale University with conflicting interpretations

Location: United States — Primary collection method: literature only
Minimum review status of the submission from Yale Center for Mendelian Genomics,Yale University: Collection method of the submission from Yale Center for Mendelian Genomics,Yale University:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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 Variants with at least 2 submissions 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 kind of conflict
136 25 1 37 2 4 21 54

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
Yale Center for Mendelian Genomics,Yale University pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective other
pathogenic 1 11 3 2 2 0 1 0 1
likely pathogenic 27 0 12 5 2 1 1 1 0
uncertain significance 1 0 0 2 2 0 0 0 0

Submitter to submitter summary #

Total submitters: 44
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Invitae 0 4 0 9 2 0 13 24
OMIM 0 22 0 17 0 2 1 19
GeneDx 0 10 0 13 0 0 2 15
Illumina Clinical Services Laboratory,Illumina 0 1 0 3 2 0 7 12
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 5 0 7 0 0 0 7
Database of Curated Mutations (DoCM) 0 1 0 7 0 0 0 7
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 3 0 4 0 0 2 6
Counsyl 0 2 0 6 0 0 0 6
GeneReviews 0 1 1 5 0 0 0 6
Baylor Genetics 0 0 0 5 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 0 0 0 5 0 0 0 5
Ambry Genetics 0 6 0 1 0 0 3 4
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 4 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 3 0 2 0 0 2 4
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 3 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 3 0 0 0 3
Blueprint Genetics 0 0 0 2 0 0 0 2
Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde,INSERM - Université Paul Sabatier 0 0 0 2 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 0 0 0 2 0 0 0 2
Athena Diagnostics Inc 0 0 0 1 0 0 0 1
Center for Human Genetics, Inc 0 2 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 1 0 0 0 1
Medical Genomics Laboratory,Department of Genetics UAB 0 0 0 1 0 0 0 1
PreventionGenetics,PreventionGenetics 0 0 0 0 0 0 1 1
Mendelics 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 0 0 1 1
GeneKor MSA 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 1 0 1
Yale Center for Mendelian Genomics,Yale University 214 0 0 1 0 0 0 1
CIViC knowledgebase,Washington University School of Medicine 0 0 0 0 0 1 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 1 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 0 0 0 0 1 1
Thoracic Oncology Service,Memorial Sloan Kettering Cancer Center 0 0 0 1 0 0 0 1
Laboratory for Clinical Genomics and Advanced Technology,Dartmouth-Hitchcock Medical Center 0 0 0 1 0 0 0 1
Department of Pediatrics, Gifu University 0 0 0 1 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 0 0 1 0 0 0 1
Arin Greene Laboratory,Boston Children's Hospital, Harvard Medical School 0 2 0 1 0 0 0 1
University Health Network,Princess Margaret Cancer Centre 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) rs180177227
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000267.3(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_000267.3(NF1):c.1260+5G>A
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000267.3(NF1):c.5164G>C (p.Ala1722Pro) rs878853900
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000687.4(AHCY):c.266C>T (p.Ala89Val) rs755222515
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608
NM_001083602.2(PTCH1):c.1305+3A>G rs878853846
NM_001184832.2(SLC12A1):c.1163del (p.Phe388fs) rs779588655
NM_001366385.1(CARD14):c.356T>C (p.Met119Thr)
NM_001369.2(DNAH5):c.7096C>T (p.Arg2366Trp) rs868151020
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880
NM_002386.3(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.3(MC1R):c.515G>T (p.Ser172Ile) rs376670171
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) rs121909723
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys) rs139480342
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) rs148976897
NM_003052.5(SLC34A1):c.644+1G>A rs201304511
NM_004252.5(SLC9A3R1):c.673G>A (p.Glu225Lys) rs119486097
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004787.4(SLIT2):c.1697G>A (p.Ser566Asn) rs200151302
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_006580.3(CLDN16):c.695T>G (p.Phe232Cys) rs104893726
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) rs34972707
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120
NM_032504.1(UNC80):c.8058+2T>G
NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) rs763615602
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_173676.2(PNPLA1):c.133T>C (p.Ser45Pro) rs781053760
NM_173676.2(PNPLA1):c.361T>C (p.Cys121Arg) rs1554138062
NM_173676.2(PNPLA1):c.50C>A (p.Ser17Tyr) rs369445146

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