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:

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
345 88 0 63 2 0 17 74

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 28 7 0 1
likely pathogenic 35 0 8 1 0
uncertain significance 0 0 0 1 1

Submitter to submitter summary #

Total submitters: 61
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
Labcorp Genetics (formerly Invitae), Labcorp 0 38 0 11 0 0 2 13
Myriad Genetics, Inc. 0 16 0 4 1 0 0 5
OMIM 0 9 0 5 0 0 0 5
Counsyl 0 12 0 3 0 0 1 4
Fulgent Genetics, Fulgent Genetics 0 5 0 2 0 0 2 4
GeneDx 0 11 0 4 0 0 0 4
Mendelics 0 6 0 3 0 0 1 4
All of Us Research Program, National Institutes of Health 0 6 0 2 0 0 1 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 6 0 1 0 0 2 3
Institute of Human Genetics, University of Leipzig Medical Center 0 18 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 2 0 0 1 3
Revvity Omics, Revvity 0 12 0 3 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 5 0 3 0 0 0 3
3billion 0 4 0 2 0 0 0 2
Baylor Genetics 0 22 0 2 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 7 0 2 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 1 0 0 1 2
MGZ Medical Genetics Center 0 12 0 1 0 0 1 2
NHS Central & South Genomic Laboratory Hub 0 1 0 2 0 0 0 2
Athena Diagnostics 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
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre 0 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 1 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 1 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 5 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 7 0 0 0 0 1 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 3 0 0 0 0 1 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 1 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 4 0 1 0 0 0 1
Genome-Nilou Lab 0 4 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 0 1 0 0 0 1
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 5 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 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
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 0 1 0 0 0 1
King Laboratory, University of Washington 0 0 0 0 0 0 1 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 0 0 1 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 1 0 0 0 1
Natera, Inc. 0 2 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
RettBASE 0 0 0 0 0 0 1 1
Saint-Louis Hospital, Assistance Publique Hôpitaux de Paris 0 0 0 1 0 0 0 1
Sharing Clinical Reports Project (SCRP) 0 8 0 0 1 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 0 0 0 1 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 74
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00028
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00027
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_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00006
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) rs367890569 0.00003
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619 0.00002
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn) rs137853060 0.00002
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000083.3(CLCN1):c.1673C>T (p.Pro558Leu) rs1803091318 0.00001
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs) rs63751327 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) rs397515524 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 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_004984.4(KIF5A):c.967C>T (p.Arg323Trp) rs1012819766 0.00001
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser) rs80356719 0.00001
NM_033109.5(PNPT1):c.1849C>T (p.Arg617Ter) rs992877769 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp) rs28942097 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_000083.3(CLCN1):c.562+1G>C rs2116837885
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_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000256.3(MYBPC3):c.506-2A>G rs397516057
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000271.5(NPC1):c.506A>T (p.Asn169Ile) rs2059038310
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_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001042492.3(NF1):c.1527+5G>C rs1060500352
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
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_001110792.2(MECP2):c.940C>G (p.Pro314Ala) rs61751373
NM_001126108.2(SLC12A3):c.2368+2del rs2543531562
NM_001142.2(AMELX):c.431del (p.Pro144fs) rs387906489
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_001927.4(DES):c.735G>C (p.Glu245Asp) rs267607486
NM_002224.4(ITPR3):c.4271C>T (p.Thr1424Met) rs1561875704
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_012309.5(SHANK2):c.2439+1G>A rs2058899044
NM_014946.4(SPAST):c.806dup (p.Tyr269Ter) rs2465835384
NM_016222.4(DDX41):c.986AGA[2] (p.Lys331del) rs752201749
NM_016239.4(MYO15A):c.343del (p.Arg115fs) rs764251996
NM_019032.6(ADAMTSL4):c.1143del (p.Glu382fs) rs1461665171
NM_020778.5(ALPK3):c.3726del (p.Lys1243fs) rs745688425
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) rs515726075
NM_052988.5(CDK10):c.729del (p.Glu244fs) rs2060622260
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter) rs1270628305
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567

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