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:

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
185 68 0 57 1 3 16 70

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 16 2 0 0
likely pathogenic 41 0 13 1 1
uncertain significance 1 1 0 1 0
other 0 0 2 0 0

Submitter to submitter summary #

Total submitters: 86
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 24 0 18 0 0 0 18
Fulgent Genetics, Fulgent Genetics 0 39 0 13 0 1 3 17
OMIM 0 10 0 16 0 1 0 17
3billion 0 10 0 15 0 0 0 15
Labcorp Genetics (formerly Invitae), Labcorp 0 14 0 12 0 0 2 14
Natera, Inc. 0 12 0 12 0 0 1 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 18 0 13 0 0 0 13
Illumina Laboratory Services, Illumina 0 2 0 8 0 0 2 10
Revvity Omics, Revvity 0 5 0 7 0 0 2 9
Baylor Genetics 0 11 0 6 0 0 0 6
Mendelics 0 2 0 5 0 0 1 6
Juno Genomics, Hangzhou Juno Genomics, Inc 0 20 0 5 0 0 0 5
Precision Medicine Center, Zhengzhou University 0 1 0 2 0 0 3 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 0 4 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 6 0 4 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 4 0 0 0 4
Myriad Genetics, Inc. 0 4 0 4 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 4 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 4 0 2 0 0 1 3
Cavalleri Lab, Royal College of Surgeons in Ireland 0 5 0 0 0 0 3 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 9 0 1 0 0 2 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 2 0 0 1 3
OLLIN Analises Genomicas, OLLIN 0 0 0 2 0 0 1 3
Department of Human Genetics, Hannover Medical School 0 2 0 2 0 0 0 2
Gharavi Laboratory, Columbia University 0 3 0 2 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 0 7 0 1 0 0 1 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 5 0 2 0 0 0 2
New York Genome Center 0 1 0 2 0 0 0 2
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 0 2 0 2 0 0 0 2
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 0 3 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 0 1 0 0 0 1
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 0 0 0 1 0 0 0 1
Biochemistry Department, Nishtar Medical University 0 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 4 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 1 0 0 0 1
Counsyl 0 7 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 1 0 0 0 1
Dasa 0 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 0 1 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 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
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1 0 0 0 1
Eurofins-Biomnis 0 2 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 0 1
Genome-Nilou Lab 0 11 0 0 0 0 1 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 0 1 0 0 0 1
Heon Lab, The Hospital for Sick Children 0 0 0 1 0 0 0 1
INGEBI, INGEBI / CONICET 0 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 0 0 0 1 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 7 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 0 0 0 1 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 0 1 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 0 1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 1 0 1 0 0 0 1
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 0 1 0 1 0 0 0 1
Laboratory of Molecular Genetics, Children's Memorial Health Institute 0 1 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 0 0 0 0 0 1 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory, Biobizkaia Health Research Institute 0 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 0 1 0 0 0 1
Otogenetics 0 1 0 1 0 0 0 1
Pediatric Metabolic Diseases, Hacettepe University 0 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 0 1 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 0 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 0 0 1 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 0 1 0 0 0 1
Variantyx, Inc. 0 8 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 70
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00188
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00041
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00032
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser) rs201367228 0.00021
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val) rs145473779 0.00014
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) rs369641941 0.00009
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353 0.00009
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00009
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) rs200844390 0.00009
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132 0.00007
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn) rs200841458 0.00005
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484 0.00004
NM_001009944.3(PKD1):c.5132C>T (p.Thr1711Ile) rs750076336 0.00003
NM_024876.4(COQ8B):c.748G>C (p.Asp250His) rs769834604 0.00003
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00003
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp) rs118203979 0.00003
NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala) rs1114167365 0.00002
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336 0.00001
NM_000092.5(COL4A4):c.735+2T>C rs2060993180 0.00001
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys) rs747249619 0.00001
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu) rs137853025 0.00001
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) rs1330112951 0.00001
NM_022098.4(XPNPEP3):c.645del (p.Ser216fs) rs751910922 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del) rs773081522
NM_000092.5(COL4A4):c.4334-23A>G rs766501515
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu) rs121918674
NM_000458.4(HNF1B):c.494G>A (p.Arg165His) rs121918675
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp) rs193922491
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.1154T>C (p.Leu385Pro) rs2092665731
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter) rs2091493090
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
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.7703G>A (p.Arg2568Lys) rs2092327300
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) rs1555459084
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu) rs1694331040
NM_014270.5(SLC7A9):c.1397C>A (p.Ser466Ter) rs1967855547
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) rs104886251
NM_033380.3(COL4A5):c.4316-20T>A rs2068567564
NM_033380.3(COL4A5):c.983G>A (p.Gly328Asp) rs2066274585
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp) rs755314355
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847

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