ClinVar Miner

Variants from Clinical Genomics Laboratory, Washington University in St. Louis with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Clinical Genomics Laboratory, Washington University in St. Louis: Collection method of the submission from Clinical Genomics Laboratory, Washington University in St. Louis:
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 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
238 55 0 26 9 2 10 41

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
Clinical Genomics Laboratory, Washington University in St. Louis pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele pathogenic, low penetrance risk factor
pathogenic 0 15 4 0 1 0 1 0
likely pathogenic 11 0 1 0 0 0 0 0
uncertain significance 3 2 0 8 2 1 0 1

Submitter to submitter summary #

Total submitters: 30
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
Invitae 0 19 0 3 9 1 0 13
OMIM 0 21 0 5 0 0 2 7
Genome-Nilou Lab 0 6 0 1 5 0 0 6
Mendelics 0 4 0 2 1 1 0 4
GeneDx 0 8 0 0 1 1 1 3
Database of Curated Mutations (DoCM) 0 0 0 3 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 10 0 3 0 0 0 3
Baylor Genetics 0 10 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 0 1 0 0 1 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 8 0 2 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 6 0 1 0 0 1 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 1 0 0 1 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 0 0 0 2 2
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 1 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 0 0 0 0 1 1
Revvity Omics, Revvity 0 1 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 3 0 1 0 0 0 1
MGZ Medical Genetics Center 0 6 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 6 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 4 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 2 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 4 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 0 0 0 1 1
Myriad Genetics, Inc. 0 2 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 1 0 0 0 1
Institute of Medical and Molecular Genetics, Hospital Universitario La Paz 0 4 0 1 0 0 0 1
All of Us Research Program, National Institutes of Health 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06710
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) rs377662483 0.00011
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_000489.6(ATRX):c.1478A>G (p.His493Arg) rs947189709 0.00005
NM_000097.7(CPOX):c.601G>A (p.Glu201Lys) rs1374394802 0.00003
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) rs375956049 0.00002
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000548.5(TSC2):c.152A>C (p.Glu51Ala) rs772617064 0.00001
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp) rs374410454 0.00001
NM_194277.3(FRMD7):c.425T>G (p.Leu142Arg) rs137852211 0.00001
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000368.5(TSC1):c.1720A>G (p.Thr574Ala) rs1454859974
NM_000368.5(TSC1):c.2683G>A (p.Val895Ile) rs576476807
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu) rs1053311636
NM_001042492.3(NF1):c.2117C>T (p.Ala706Val) rs2151425819
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001378974.1(FBXW11):c.1150C>T (p.Arg384Trp) rs1758081729
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) rs397514698
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys) rs886039137
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys) rs397517199
NM_006218.4(PIK3CA):c.1340_1366del (p.Pro447_Leu455del)
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala) rs397517202
NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu) rs863225060
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) rs1724343994
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro) rs200018596
NM_006218.4(PIK3CA):c.344G>T (p.Arg115Leu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.