ClinVar Miner

Variants from Victorian Clinical Genetics Services,Murdoch Childrens Research Institute with conflicting interpretations

Location: Australia — Primary collection method: clinical testing
Minimum review status of the submission from Victorian Clinical Genetics Services,Murdoch Childrens Research Institute: Collection method of the submission from Victorian Clinical Genetics Services,Murdoch Childrens Research Institute:
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
202 56 11 44 1 4 15 64

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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute pathogenic likely pathogenic uncertain significance likely benign affects risk factor
pathogenic 11 35 5 0 3 1
likely pathogenic 9 0 9 0 0 0
uncertain significance 0 1 0 1 0 0

Submitter to submitter summary #

Total submitters: 46
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
GeneReviews 0 8 10 2 0 0 0 12
Counsyl 0 0 0 8 0 0 3 11
Invitae 0 27 0 4 0 0 3 7
Illumina Clinical Services Laboratory,Illumina 0 21 0 3 0 0 2 5
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 4 0 4 0 0 0 4
Baylor Genetics 0 24 0 2 0 0 1 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 5 0 1 0 0 2 3
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 0 1 0 0 0 3 0 3
Myriad Women's Health, Inc. 0 16 0 3 0 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 0 4 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 5 0 1 0 0 1 2
Natera, Inc. 0 16 0 1 1 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 0 8 0 1 0 0 1 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 2 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 2 0 2 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 0 0 0 1 0 1 0 2
OMIM 0 35 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 2 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 6 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 3 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 23 0 1 0 0 0 1
Mendelics 0 9 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 7 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 5 0 1 0 0 0 1
UW Hindbrain Malformation Research Program,University of Washington 0 1 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 0 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 1 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 0 0 0 0 0 1 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 0 1
Research and Development, ARUP Laboratories 0 2 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 1 0 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 1 0 1 0 0 0 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 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 3 0 0 0 0 1 1
Institute of Molecular Medicine and Oncology,Chongqing Medical University 0 0 0 1 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 1 0 1 0 0 0 1
Laboratory of Molecular Genetics,Children's Memorial Health Institute 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 64
Download table as spreadsheet
HGVS dbSNP
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807
NM_000091.4(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000267.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_001008389.3(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376
NM_001032221.6(STXBP1):c.37+2dup
NM_001040142.2(SCN2A):c.606-159A>G rs1553567473
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195
NM_001142301.1(TMEM67):c.2079+2dup rs386834192
NM_001289808.2(CRYAB):c.32G>A (p.Arg11His)
NM_001330504.1(ALG1):c.440C>T (p.Ser147Leu) rs28939378
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter) rs1057516045
NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_003482.3(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966
NM_004614.5(TK2):c.129_132del (p.Lys43fs) rs281865500
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_016239.3(MYO15A):c.8183G>A rs184435771
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.6764+2T>A rs763975867
NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017890.4(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) rs145999922
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr) rs104886302
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688
NM_144612.6(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902

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