ClinVar Miner

Variants from Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin: Collection method of the submission from Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin:
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
256 88 0 46 3 0 12 58

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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 26 5 0
likely pathogenic 20 0 3 0
uncertain significance 2 3 0 3

Submitter to submitter summary #

Total submitters: 52
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 27 0 10 0 0 2 12
Labcorp Genetics (formerly Invitae), Labcorp 0 24 0 8 3 0 1 12
Revvity Omics, Revvity 0 8 0 6 0 0 1 7
Counsyl 0 3 0 5 0 0 1 6
Baylor Genetics 0 13 0 3 0 0 2 5
Institute of Human Genetics, University of Leipzig Medical Center 0 9 0 3 0 0 2 5
3billion, Medical Genetics 0 5 0 4 0 0 1 5
MGZ Medical Genetics Center 0 7 0 3 0 0 0 3
Natera, Inc. 0 5 0 2 0 0 1 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 3 0 0 0 3
Solve-RD Consortium 0 0 0 3 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 12 0 1 0 0 1 2
Mendelics 0 7 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 8 0 1 0 0 1 2
Fulgent Genetics, Fulgent Genetics 0 12 0 2 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 5 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 2 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 0 1 0 0 1 2
New York Genome Center 0 3 0 1 0 0 1 2
Athena Diagnostics 0 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 1 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 0 1 0 0 0 1
Claritas Genomics 0 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 5 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 1 0 0 0 1
GeneDx 0 14 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 7 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 4 0 0 0 0 1 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 4 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 5 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 6 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 5 0 0 0 0 1 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 0 0 0 1 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 0 0 0 0 0 1 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 5 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 0 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 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
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 0 0 1 1
ClinGen TP53 Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
Myriad Genetics, Inc. 0 5 0 0 0 0 1 1
Genome-Nilou Lab 0 4 0 0 0 0 1 1
GenomeConnect - Simons Searchlight 0 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_033419.5(PGAP3):c.*559C>T rs183208638 0.00300
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu) rs202146344 0.00017
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_033419.5(PGAP3):c.558-10G>A rs200598755 0.00009
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg) rs121918237 0.00007
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309 0.00006
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter) rs367797185 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_001177316.2(SLC34A3):c.1335+2T>A rs752222200 0.00002
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp) rs1557119999 0.00001
NM_001111125.3(IQSEC2):c.3397G>A (p.Asp1133Asn) rs1556859667 0.00001
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr) rs1424516740 0.00001
NM_058004.4(PI4KA):c.3454G>A (p.Glu1152Lys) rs1351749039 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NC_012920.1(MT-ND3):m.10197G>A rs267606891
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr) rs77722678
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000546.6(TP53):c.532C>G (p.His178Asp) rs1064795203
NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys)
NM_001101.5(ACTB):c.826G>A (p.Glu276Lys) rs1554329216
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs) rs2138862858
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr) rs796052226
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003745.2(SOCS1):c.192C>G (p.Tyr64Ter) rs2141125120
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del) rs1555471931
NM_004415.4(DSP):c.7097G>A (p.Arg2366His) rs387906618
NM_004606.5(TAF1):c.1726C>T (p.Pro576Ser) rs864321630
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_005476.7(GNE):c.22C>T (p.Arg8Ter) rs766420673
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_018238.4(AGK):c.523_524del (p.Ile175fs) rs1228071168
NM_018676.4(THSD1):c.1627_1630del (p.Lys543fs)
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp) rs1555451521
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_032043.3(BRIP1):c.2258-1G>A rs1064793887
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His) rs1057518092
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
NM_198514.4(NHLRC2):c.1750del (p.Phe583_Leu584insTer)
NM_198514.4(NHLRC2):c.1A>G (p.Met1Val) rs2134678958
NM_198514.4(NHLRC2):c.2074G>T (p.Asp692Tyr)

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