ClinVar Miner

Variants from Human Genetics Bochum, Ruhr University Bochum with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Human Genetics Bochum, Ruhr University Bochum: Collection method of the submission from Human Genetics Bochum, Ruhr University Bochum:
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
153 62 0 35 3 0 11 44

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
Human Genetics Bochum, Ruhr University Bochum pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 15 5 0 1
likely pathogenic 20 0 5 0 0
uncertain significance 0 0 0 1 1
likely benign 0 0 1 0 0

Submitter to submitter summary #

Total submitters: 37
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
Invitae 0 30 0 8 0 0 2 10
GeneDx 0 8 0 3 1 0 0 4
Mendelics 0 5 0 3 0 0 1 4
Myriad Genetics, Inc. 0 15 0 4 0 0 0 4
OMIM 0 8 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 2 0 0 1 3
Counsyl 0 12 0 3 0 0 0 3
Revvity Omics, Revvity 0 10 0 1 0 0 1 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 2 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 5 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 0 0 0 0 2 2
Baylor Genetics 0 22 0 1 0 0 0 1
Athena Diagnostics Inc 0 0 0 1 0 0 0 1
King Laboratory, University of Washington 0 0 0 0 0 0 1 1
MGZ Medical Genetics Center 0 12 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 4 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 1 0 0 0 1
Sharing Clinical Reports Project (SCRP) 0 8 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Blueprint Genetics 0 0 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 6 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA2) 0 3 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 8 0 0 1 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 0 1 0 0 0 1
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre 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
Institute of Human Genetics, University of Leipzig Medical Center 0 13 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 3 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 5 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 1 0 0 0 1
Ding PR Lab, Sun Yat-sen University Cancer Center 0 0 0 0 0 0 1 1
3billion 0 0 0 1 0 0 0 1
All of Us Research Program, National Institutes of Health 0 9 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001040108.2(MLH3):c.2425A>G (p.Met809Val) rs61752722 0.00197
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn) rs137853060 0.00002
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs) rs63751327 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) rs1291555996 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_000038.6(APC):c.3133C>T (p.Gln1045Ter) rs2149885099
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile) rs80358507
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) rs758337699
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.7204+1G>A rs1555394557
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000257.4(MYH7):c.2923-5G>A rs779010466
NM_000314.8(PTEN):c.885_886del (p.Leu295_Cys296insTer) rs1564568350
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001042492.3(NF1):c.1527+5G>C rs1060500352
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp) rs876660190
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys) rs2144406630
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_002224.4(ITPR3):c.4271C>T (p.Thr1424Met)
NM_002878.4(RAD51D):c.2dup (p.Met1fs) rs772306012
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_019032.6(ADAMTSL4):c.1143del (p.Glu382fs) rs1461665171
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) rs515726075

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