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:
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
164 31 0 26 1 0 20 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
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 12 5 0 0
likely pathogenic 15 0 11 2 2
likely benign 0 1 1 0 0

Submitter to submitter summary #

Total submitters: 34
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 25 0 11 0 0 4 15
Invitae 0 13 0 4 1 0 5 10
CeGaT Center for Human Genetics Tuebingen 0 14 0 1 0 0 3 4
Revvity Omics, Revvity 0 6 0 3 0 0 0 3
Baylor Genetics 0 1 0 2 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 4 0 1 0 0 1 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 2 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 2 0 0 0 2
OMIM 0 7 0 1 0 0 0 1
Athena Diagnostics Inc 0 5 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 1 1
Ambry Genetics 0 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1 1
Mendelics 0 0 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 5 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 3 0 0 0 0 1 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 5 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 1 0 0 0 1
Laboratory of Molecular Genetics, CHU RENNES 0 0 0 0 0 0 1 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 2 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 4 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 8 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 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
3billion 0 2 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015570.4(AUTS2):c.1717C>T (p.Pro573Ser) rs1051952947 0.00005
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) rs779824005 0.00003
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_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_000738.3(CHRM1):c.1274T>C (p.Phe425Ser) rs2135039016
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_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs) rs753324947
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) rs587777522
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
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_003545.4(H4C5):c.136C>T (p.Arg46Cys) rs950721550
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
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)
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
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_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_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840

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