ClinVar Miner

Variants from Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli with conflicting interpretations

Location: Spain  Primary collection method: clinical testing
Minimum review status of the submission from Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli: Collection method of the submission from Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli:
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
243 50 0 49 1 0 21 61

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
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 24 5 0 0
likely pathogenic 26 0 15 2 2
likely benign 0 1 1 0 0

Submitter to submitter summary #

Total submitters: 66
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
GeneDx 0 26 0 17 0 0 4 21
Labcorp Genetics (formerly Invitae), Labcorp 0 19 0 6 1 0 5 12
CeGaT Center for Human Genetics Tuebingen 0 19 0 2 0 0 3 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 4 0 2 0 0 3 5
PreventionGenetics, part of Exact Sciences 0 10 0 2 0 0 2 4
Revvity Omics, Revvity 0 8 0 3 0 0 1 4
Baylor Genetics 0 5 0 3 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 4 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 10 0 3 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 9 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 1 0 0 2 3
3billion 0 10 0 2 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 3 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 5 0 2 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 5 0 2 0 0 0 2
Mendelics 0 1 0 1 0 0 1 2
OMIM 0 14 0 2 0 0 0 2
Variantyx, Inc. 0 4 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 9 0 2 0 0 0 2
Ambry Genetics 0 0 0 1 0 0 0 1
Athena Diagnostics 0 5 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 0 0 0 1 1
Clinical Genetics Laboratory, Region Ostergotland 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 5 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 2 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 0 1 0 0 0 1
Dasa 0 7 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 0 0 1 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 0 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 5 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 3 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 0 0 0 1 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 0 0 1 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 0 1 0 0 0 1
Genome-Nilou Lab 0 2 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 9 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 6 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 3 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 2 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Laboratori Clínic ICS Lleida, Hospital Universitari Arnau de Vilanova 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 0 0 0 1 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 5 0 1 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 0 0 0 0 0 1 1
Medical Genetics, University of Parma 0 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 0 0 1 0 0 0 1
NHS Central & South Genomic Laboratory Hub 0 1 0 1 0 0 0 1
Natera, Inc. 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 0 0 1 1
Solve-RD Consortium 0 0 0 1 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 0 1 0 0 0 1
The Purple Gene Clinic, Mumbai 0 0 0 1 0 0 0 1
UW Hindbrain Malformation Research Program, University of Washington 0 0 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 61
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015570.4(AUTS2):c.1717C>T (p.Pro573Ser) rs1051952947 0.00004
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) rs779824005 0.00003
NM_001353214.3(DYM):c.1867C>T (p.Arg623Ter) rs756877451 0.00002
NM_004928.3(CFAP410):c.286G>A (p.Glu96Lys) rs774614339 0.00002
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_001029896.2(WDR45):c.695G>A (p.Arg232His) rs781978699 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_015959.4(TMX2):c.392del (p.Leu131fs) rs758529293 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000163.5(GHR):c.476T>A (p.Leu159Ter) rs961681338
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter) rs1599344532
NM_000814.6(GABRB3):c.916A>G (p.Ile306Val) rs1889965563
NM_001032382.2(PQBP1):c.181G>A (p.Gly61Arg) rs2147471872
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His) rs1057521250
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp) rs2074117985
NM_001128840.3(CACNA1D):c.1955C>T (p.Ser652Leu) rs777591848
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001145358.2(SIN3A):c.3179A>G (p.Asp1060Gly) rs2141396034
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys) rs1057521083
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs) rs753324947
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) rs587777522
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs) rs1064793130
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001374828.1(ARID1B):c.2581+5G>A rs1554298239
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001375524.1(TRRAP):c.3104G>A (p.Arg1035Gln) rs2116495143
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) rs121913621
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003545.4(H4C5):c.136C>T (p.Arg46Cys) rs950721550
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) rs1984243311
NM_005618.4(DLL1):c.845dup (p.Leu283fs) rs760008381
NM_005654.6(NR2F1):c.320A>G (p.Lys107Arg) rs2149941608
NM_005862.3(STAG1):c.1117C>T (p.Arg373Ter) rs2107814279
NM_005909.5(MAP1B):c.2995C>T (p.Arg999Ter) rs2478574299
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_006494.4(ERF):c.891_892del (p.Gly299fs) rs587777007
NM_006766.5(KAT6A):c.3353-1G>A rs1351334408
NM_006852.6(TLK2):c.1637G>A (p.Arg546Gln) rs2147165727
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012309.5(SHANK2):c.1924C>T (p.Arg642Ter) rs2134275196
NM_013275.6(ANKRD11):c.4396_4397del (p.Arg1466fs) rs2151750068
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro) rs2089686081
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_018133.4(MSL2):c.694_697del (p.Ser232fs) rs1576352885
NM_022893.4(BCL11A):c.488-1G>A rs2466269611
NM_032271.3(TRAF7):c.1873C>G (p.Leu625Val) rs2141298772
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
NM_197968.4(ZMYM2):c.2528_2529del (p.Lys843fs) rs2140727029

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