ClinVar Miner

Variants from Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare: Collection method of the submission from Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare:
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 Variants with at least 2 submissions 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 kind of conflict
553 84 9 47 10 4 32 92

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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare pathogenic likely pathogenic uncertain significance likely benign benign association drug response risk factor
pathogenic 9 32 11 2 1 1 1 2
likely pathogenic 15 0 16 0 0 0 1 0
uncertain significance 3 3 0 9 2 0 0 0

Submitter to submitter summary #

Total submitters: 87
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Counsyl 0 11 0 9 0 0 8 17
Invitae 0 39 0 7 5 0 4 15
GeneDx 0 35 0 8 1 0 5 14
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 15 0 3 1 0 4 8
Illumina Clinical Services Laboratory,Illumina 0 9 0 0 3 0 5 8
GeneReviews 0 8 7 0 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 7 0 4 0 0 3 7
OMIM 0 40 0 2 0 2 1 5
Athena Diagnostics Inc 0 5 0 1 2 0 2 5
Ambry Genetics 0 20 0 4 0 0 1 5
Research and Development, ARUP Laboratories 0 3 3 2 0 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 3 0 0 1 3
Inherited Neuropathy Consortium 0 0 0 0 0 0 3 3
Center for Human Genetics, Inc 0 1 0 2 0 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 14 0 1 0 0 2 2
Fulgent Genetics,Fulgent Genetics 0 13 0 1 0 0 1 2
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 0 0 2 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 0 5 0 1 0 0 1 2
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 11 0 2 0 0 0 2
GeneKor MSA 0 9 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 4 0 0 0 0 2 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 6 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 3 0 2 0 0 0 2
Sharon lab,Hadassah-Hebrew University Medical Center 0 1 0 2 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 3 0 1 0 0 1 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 0 0 0 2 2
Gharavi Laboratory,Columbia University 0 10 0 2 0 0 0 2
Baylor Genetics 0 6 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 10 0 0 0 0 1 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 2 0 0 0 0 1 1
Medical Genomics Laboratory,Department of Genetics UAB 0 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 10 0 0 0 0 1 1
Mendelics 0 12 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 3 0 0 0 0 1 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 0 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 8 0 0 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 6 0 1 0 0 0 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 0 1
University of British Columbia 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 1 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 1 0 0 0 1
Albrecht-Kossel-Institute,Medical University Rostock 0 0 0 0 0 1 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Medical Genetics, University of Parma 0 0 0 0 0 0 1 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 1 0 0 0 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 0 0 1 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 1 0 0 1 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 0 0 0 1 1
Geschwind lab,University of California Los Angeles 0 0 0 1 0 1 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 727 1 0 0 0 0 1 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 1 0 0 0 1
Color 0 11 0 1 0 0 0 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
Human Genetics - Radboudumc,Radboudumc 0 0 0 0 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 11 0 1 0 0 0 1
Robarts Research Institute,Western University 0 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 1 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 1 0 0 1 1
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 4 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 2 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 8 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 0 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 1 0 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 92
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.3739del (p.Ile1247fs) rs886040494
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000071.2(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000091.4(COL4A3):c.1594G>T (p.Gly532Cys)
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.4(COL4A3):c.361G>A (p.Gly121Ser) rs778886174
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.443G>T (p.Gly148Val) rs775373641
NM_000091.4(COL4A3):c.4803del (p.Gly1602fs) rs760846085
NM_000091.4(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000091.4(COL4A3):c.898G>A (p.Gly300Arg) rs772708743
NM_000092.4(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.594+1G>A rs1553690565
NM_000092.4(COL4A4):c.81_86del (p.27_28IL[1]) rs771943519
NM_000142.4(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.4(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000169.2(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728
NM_000267.3(NF1):c.4481A>G (p.Gln1494Arg) rs1135402865
NM_000312.3(PROC):c.1201G>A (p.Asp401Asn) rs142742242
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val) rs150037063
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000495.5(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237
NM_000495.5(COL4A5):c.4511-345A>G rs1569508899
NM_000495.5(COL4A5):c.4688G>A (p.Arg1563Gln) rs281874743
NM_000495.5(COL4A5):c.4793C>T (p.Ser1598Phe) rs1569509257
NM_000495.5(COL4A5):c.488T>C (p.Met163Thr) rs142503631
NM_000495.5(COL4A5):c.5030G>A (p.Arg1677Gln) rs104886308
NM_000495.5(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000642.3(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs) rs796051938
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.3(CUBN):c.6125-2A>G rs75386064
NM_001081.3(CUBN):c.6225G>A (p.Ser2075=) rs75737363
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) rs1554163919
NM_001163213.1(FGFR3):c.1144G>A (p.Gly382Arg) rs28931614
NM_001184832.2(SLC12A1):c.1163del (p.Phe388fs) rs779588655
NM_001199563.2(BVES):c.457C>T (p.Gln153Ter) rs1562137622
NM_001297.5(CNGB1):c.2893-7G>A rs749199721
NM_001369.2(DNAH5):c.962C>T (p.Ser321Leu) rs201077964
NM_001710.5(CFB):c.1407C>G (p.Ile469Met) rs201798809
NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_003052.5(SLC34A1):c.654G>A (p.Ala218=) rs150592440
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) rs775283269
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581
NM_004646.3(NPHS1):c.808G>T (p.Gly270Cys) rs386833961
NM_007294.3(BRCA1):c.3752_3755GTCT[1] (p.Ser1253fs) rs80357868
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007298.3(BRCA1):c.787+353dup rs876659327
NM_012120.3(CD2AP):c.1569_1571AGA[2] (p.Glu525del) rs545551160
NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp) rs150851309
NM_014140.3(SMARCAL1):c.1147+8G>A rs759562755
NM_014625.3(NPHS2):c.586C>T (p.Arg196Ter) rs12568913
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs) rs1555793828
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs) rs1221876133
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys) rs201534539
NM_022489.4(INF2):c.530G>A (p.Arg177His) rs1566778651
NM_022489.4(INF2):c.550G>A (p.Glu184Lys) rs1566778676
NM_022489.4(INF2):c.640C>T (p.Arg214Cys)
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800
NM_033380.3(COL4A5):c.835-2A>G rs1556406859
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) rs1419840309
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_144696.6(AXDND1):c.3032-1907G>A rs74315348
NM_153676.4(USH1C):c.2380+1G>C rs1060499916
NM_181798.1(KCNQ1):c.394C>T (p.Arg132Cys) rs199472719
NM_181798.1(KCNQ1):c.715C>T (p.Arg239Trp) rs199473411
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn) rs398124575
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) rs33939927
NM_206933.3(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.3(USH2A):c.9258+1G>A rs748810737
Single allele

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