ClinVar Miner

Variants from Centogene AG - the Rare Disease Company with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Centogene AG - the Rare Disease Company: Collection method of the submission from Centogene AG - the Rare Disease Company:
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
213 89 15 55 0 3 19 79

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
Centogene AG - the Rare Disease Company pathogenic likely pathogenic uncertain significance likely benign affects other
pathogenic 15 42 17 2 1 3
likely pathogenic 13 0 2 0 0 0

Submitter to submitter summary #

Total submitters: 41
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
Counsyl 0 14 0 14 0 0 6 20
GeneReviews 0 18 15 2 0 0 0 17
Invitae 0 46 0 7 0 0 6 13
OMIM 0 63 0 5 0 3 0 8
Illumina Clinical Services Laboratory,Illumina 0 6 0 2 0 0 4 6
Mendelics 0 9 0 1 0 0 4 5
Institute of Human Genetics, Klinikum rechts der Isar 0 11 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 3 0 0 1 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 26 0 4 0 0 0 4
Baylor Genetics 0 21 0 3 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 6 0 2 0 0 1 3
Genetic Services Laboratory, University of Chicago 0 10 0 1 0 1 0 2
Integrated Genetics/Laboratory Corporation of America 0 27 0 2 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 4 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 14 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 2 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 6 0 0 0 0 2 2
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 1 0 1 0 0 1 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 9 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 5 0 1 0 0 0 1
GeneDx 0 3 0 1 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 0 0 0 1 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 1 0 0 0 1
Natera, Inc. 0 17 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 3 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Department of Genetics,Robert DEBRE University Hospital 0 0 0 1 0 0 0 1
CHU Sainte-Justine Research Center,University of Montreal 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 7 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
Neuromuscular Diagnostic Laboratory,American University of Beirut Medical Center 0 0 0 1 0 0 0 1
Difficult and Complicated Liver Diseases and Artificial Liver Center,Beijing You An Hospital, Capital Medical University 0 0 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 1 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 0 1
Nilou-Genome Lab 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 79
Download table as spreadsheet
HGVS dbSNP
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000047.2(ARSL):c.1743G>A (p.Trp581Ter) rs80338714
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)
NM_000110.3(DPYD):c.1475C>T (p.Ser492Leu) rs72549304
NM_000137.3(FAH):c.192G>T (p.Gln64His) rs80338894
NM_000137.3(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000137.4(FAH):c.1062+5G>A rs80338901
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000157.3(GBA):c.1448T>C rs421016
NM_000243.2(MEFV):c.688G>A (p.Glu230Lys) rs104895080
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs6445
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
NM_000521.4(HEXB):c.1082+5G>A rs5030731
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_004006.3(DMD):c.1283del (p.Asn428fs)
NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs)
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu) rs141028076
NM_014797.2(ZBTB24):c.1369C>T (p.Arg457Ter) rs387907106
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) rs397515352
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn) rs1057521927
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_031307.4(PUS3):c.1181_1182del (p.Ser394fs) rs753229591
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu) rs201623252
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter) rs1565019928
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
UGT1A1*28 rs3064744

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