ClinVar Miner

Variants from Molecular Biology Laboratory, Fundació Puigvert with conflicting interpretations

Location: Spain — Primary collection method: research
Minimum review status of the submission from Molecular Biology Laboratory, Fundació Puigvert: Collection method of the submission from Molecular Biology Laboratory, Fundació Puigvert:
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
228 47 0 35 0 2 12 46

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
Molecular Biology Laboratory, Fundació Puigvert pathogenic likely pathogenic uncertain significance likely benign affects
pathogenic 0 5 2 0 0
likely pathogenic 30 0 10 1 1
other 0 0 1 0 0

Submitter to submitter summary #

Total submitters: 43
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
OMIM 0 9 0 16 0 1 0 17
Invitae 0 9 0 9 0 0 2 11
Illumina Clinical Services Laboratory,Illumina 0 2 0 8 0 0 3 11
Baylor Genetics 0 7 0 6 0 0 1 7
Fulgent Genetics,Fulgent Genetics 0 2 0 6 0 0 1 7
Counsyl 0 8 0 3 0 0 3 6
Research and Development, ARUP Laboratories 0 1 0 5 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 0 9 0 4 0 0 0 4
Mendelics 0 1 0 3 0 0 1 4
Precision Medicine Center,Zhengzhou University 0 0 0 1 0 0 3 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 4 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 4 0 2 0 0 1 3
Broad Institute Rare Disease Group, Broad Institute 0 2 0 3 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 0 5 0 0 0 0 3 3
Myriad Women's Health, Inc. 0 3 0 3 0 0 0 3
Natera, Inc. 0 1 0 1 0 0 1 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 2 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 2 0 0 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 4 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 0 0 0 1 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 0 0 1 0 0 0 1
GeneReviews 0 2 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 3 0 1 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 7 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 3 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 0 0 1 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 0 0 1 1
Pediatric Metabolic Diseases,Hacettepe University 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 1 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 0 1 0 1 0 0 0 1
Pars Genome Lab 0 0 0 0 0 0 1 1
Laboratory of Molecular Genetics,Children's Memorial Health Institute 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 46
Download table as spreadsheet
HGVS dbSNP
NM_000085.5(CLCNKB):c.610G>A rs121909132
NM_000091.5(COL4A3):c.2371C>T rs1060499654
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met)
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del) rs1567154953
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala) rs1114167365
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) rs1555459084
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380
NM_002473.5(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu)
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val) rs145473779
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn)
NM_024876.4(COQ8B):c.748G>C (p.Asp250His)
NM_033380.3(COL4A5):c.1481G>A (p.Gly494Asp) rs104886118
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp) rs281874673
NM_033380.3(COL4A5):c.2677G>A (p.Gly893Ser) rs1569497776
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) rs104886251
NM_033380.3(COL4A5):c.466-12G>A rs104886414
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp) rs118203979

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