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 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
834 177 0 93 17 2 42 144

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 likely risk allele risk factor
pathogenic 0 59 10 0 0 0 1
likely pathogenic 34 0 18 1 1 1 0
uncertain significance 7 8 0 12 5 0 0
likely benign 0 0 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 78
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 39 0 17 7 0 4 28
Fulgent Genetics, Fulgent Genetics 0 72 0 20 2 0 6 28
Baylor Genetics 0 40 0 11 0 0 1 12
Illumina Laboratory Services, Illumina 0 18 0 2 8 0 2 12
Counsyl 0 5 0 6 0 0 3 9
OMIM 0 38 0 3 0 1 4 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 14 0 3 0 0 5 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 15 0 5 0 0 2 7
Juno Genomics, Hangzhou Juno Genomics, Inc 0 5 0 5 0 0 1 6
MGZ Medical Genetics Center 0 11 0 5 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 22 0 5 0 0 0 5
Natera, Inc. 0 10 0 3 1 0 1 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 26 0 4 0 0 1 5
Genome-Nilou Lab 0 13 0 2 0 0 3 5
3billion 0 25 0 3 0 0 1 4
Mendelics 0 14 0 1 1 0 1 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 10 0 3 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 3 0 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 0 4 0 2 0 0 1 3
Precision Medicine Center, Zhengzhou University 0 1 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 6 0 2 0 0 1 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 0 2 0 0 0 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 0 1 0 0 1 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 0 1 2
Institute of Human Genetics, Cologne University 0 1 0 2 0 0 0 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 7 0 0 0 0 2 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 3 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 19 0 1 0 0 1 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 4 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 4 0 0 0 0 2 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 7 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 4 0 2 0 0 0 2
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 1 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 3 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 2 0 1 0 0 0 1
Revvity Omics, Revvity 0 12 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 0 1 0 0 0 1
UAB Medical Genomics Laboratory, UAB Medicine 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 2 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 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
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 2 0 1 0 0 0 1
Albrecht-Kossel-Institute, Medical University Rostock 0 0 0 0 0 0 1 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 2 0 0 0 0 1 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 0 0 0 0 0 1 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 2 0 0 0 0 1 1
Medical Molecular Genetics Department, National Research Center 0 0 0 0 0 0 1 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 5 0 0 0 0 1 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 1 0 0 0 1
National Newborn Screening Laboratory, Hospital Nacional de Niños 0 0 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 0 0 1 0 0 0 1
North East Yorkshire Genomic Laboratory Hub 0 0 0 0 0 0 1 1
Leiden Open Variation Database 0 1 0 0 0 0 1 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 3 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1 1
Kids Research, The Children's Hospital at Westmead 0 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 2 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 1 0 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 1 0 0 1 0 0 1
Myriad Genetics, Inc. 0 5 0 1 0 0 0 1
New York Genome Center 0 2 0 1 0 0 0 1
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul 0 1 0 1 0 0 0 1
Suma Genomics 0 2 0 1 0 0 0 1
DASA 0 3 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 2 0 1 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 0 1 0 1
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
Solve-RD Consortium 0 0 0 1 0 0 0 1
NHS Central & South Genomic Laboratory Hub 0 0 0 1 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 144
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00245
NM_001081.4(CUBN):c.6125-2A>G rs75386064 0.00226
NM_001081.4(CUBN):c.6225G>A (p.Ser2075=) rs75737363 0.00182
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00063
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu) rs201077964 0.00038
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys) rs201534539 0.00031
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231 0.00021
NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp) rs150851309 0.00021
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001710.6(CFB):c.1407C>G (p.Ile469Met) rs201798809 0.00019
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser) rs121434391 0.00018
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile) rs150672907 0.00017
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00015
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val) rs145473779 0.00014
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_030653.4(DDX11):c.1403dup (p.Ser469fs) rs778363138 0.00013
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631 0.00012
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) rs151171179 0.00011
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_022489.4(INF2):c.*1+1G>C rs758452999 0.00007
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_030653.4(DDX11):c.1672C>T (p.Arg558Ter) rs201180239 0.00005
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys) rs765338121 0.00004
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr) rs1422578175 0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001297.5(CNGB1):c.2893-7G>A rs749199721 0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) rs773450573 0.00003
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_016341.4(PLCE1):c.1223G>T (p.Arg408Ile) rs752029771 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329 0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln) rs1451194842 0.00001
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys) rs386833961 0.00001
NM_004924.6(ACTN4):c.236G>A (p.Arg79Gln) rs759055242 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) rs1419840309 0.00001
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) rs757854282 0.00001
NM_145207.3(AFG2A):c.1586G>A (p.Arg529Gln) rs567175477 0.00001
NM_201548.5(CERKL):c.239-2A>G rs776886395 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_000018.4(ACADVL):c.864del (p.Phe288fs) rs1555528386
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000038.6(APC):c.2677G>T (p.Glu893Ter) rs199740875
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs) rs886040494
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp) rs1574745989
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.4(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000283.4(PDE6B):c.1832+1G>T rs370758397
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) rs1603288832
NM_000444.6(PHEX):c.1768+173A>G rs1602402549
NM_000458.4(HNF1B):c.544+3_544+6del rs2033925649
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) rs1554615511
NM_000642.3(AGL):c.378T>A (p.Cys126Ter) rs1553183359
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.10698GGCTGT[4] (p.3567AV[4]) rs777460677
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser) rs2091705970
NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter) rs770667157
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs) rs2091411664
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys) rs1596550613
NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs) rs1596527744
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) rs1555459084
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001042492.3(NF1):c.15del (p.Arg5fs) rs1057516197
NM_001042492.3(NF1):c.2329T>G (p.Trp777Gly) rs876658853
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.3708+1G>A rs1420779915
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001142800.2(EYS):c.8830del (p.Val2944fs) rs776526721
NM_001199563.2(POPDC1):c.457C>T (p.Gln153Ter) rs1562137622
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys) rs1226708979
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter) rs1597229404
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
NM_004183.4(BEST1):c.424_426dup (p.Ser142_Val143insSer) rs1591284563
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) rs775283269
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg) rs1466787789
NM_004621.6(TRPC6):c.518A>G (p.Tyr173Cys) rs1555003819
NM_004646.4(NPHS1):c.2869G>A (p.Val957Met) rs114849139
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs) rs1603215223
NM_007327.4(GRIN1):c.2444G>A (p.Gly815Glu) rs1833698535
NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del) rs545551160
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp) rs1313658611
NM_014140.4(SMARCAL1):c.2427+1G>A rs1559138455
NM_014625.4(NPHS2):c.115C>T (p.Gln39Ter) rs869312746
NM_014625.4(NPHS2):c.586C>T (p.Arg196Ter) rs12568913
NM_014625.4(NPHS2):c.823dup (p.Gln275fs) rs1572262824
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter) rs1323529877
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_020964.3(EPG5):c.6752del (p.Val2251fs) rs1057516194
NM_021939.4(FKBP10):c.831dup (p.Gly278fs) rs137853883
NM_022356.4(P3H1):c.570_571del (p.Gly191fs) rs1553143741
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln) rs1037084691
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_033380.3(COL4A5):c.2165G>A (p.Gly722Glu) rs104886163
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755
NM_175914.5(HNF4A):c.640T>A (p.Ser214Thr) rs1060499693
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn) rs398124575
NM_206933.4(USH2A):c.409dup (p.Ser137fs) rs1571805164

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