ClinVar Miner

Variants from Sydney Genome Diagnostics,Children's Hospital Westmead with conflicting interpretations

Location: unspecified — Primary collection method: clinical testing
Minimum review status of the submission from Sydney Genome Diagnostics,Children's Hospital Westmead: Collection method of the submission from Sydney Genome Diagnostics,Children's Hospital Westmead:
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
256 22 4 17 3 0 6 26

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
Sydney Genome Diagnostics,Children's Hospital Westmead pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 4 10 2 0 0
likely pathogenic 7 0 3 0 0
uncertain significance 1 0 0 2 1

Submitter to submitter summary #

Total submitters: 23
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
Research and Development, ARUP Laboratories 0 5 4 3 0 0 0 7
Invitae 0 13 0 1 2 0 2 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 2 0 0 0 2
Counsyl 0 1 0 0 0 0 2 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 2 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 2 0 0 0 2
Baylor Genetics 0 4 0 1 0 0 0 1
Athena Diagnostics Inc 0 0 0 1 0 0 0 1
GeneDx 0 0 0 0 0 0 1 1
Natera, Inc. 0 2 0 0 1 0 0 1
GeneReviews 0 2 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 2 0 1 0 0 0 1
Blueprint Genetics 0 0 0 0 0 0 1 1
Institute of Human Genetics, Klinikum rechts der Isar 0 4 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 1 0 0 0 1
Laboratory of Molecular Genetics,Children's Memorial Health Institute 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_000092.4(COL4A4):c.81_86del (p.27_28IL[1]) rs771943519
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402
NM_001008389.3(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_001008389.3(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp) rs869025541
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853
NM_033380.3(COL4A5):c.1498G>C (p.Gly500Arg) rs281874670
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp) rs281874673
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.1922G>A (p.Gly641Glu) rs1569494378
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser) rs1556420349
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308
NM_033380.3(COL4A5):c.687+1G>A rs104886440
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.6(TMEM67):c.2301del (p.Asp768fs) rs386834191
NM_172351.3(CD46):c.286+2T>G rs769742294

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