ClinVar Miner

Variants from Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals with conflicting interpretations

Location: Canada — Primary collection method: clinical testing
Minimum review status of the submission from Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals: Collection method of the submission from Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals:
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
139 67 1 27 4 0 3 33

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
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 12 1 0 0
likely pathogenic 8 0 2 0 0
uncertain significance 0 0 0 3 0
likely benign 0 0 1 0 4
benign 0 0 0 3 0

Submitter to submitter summary #

Total submitters: 26
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
Invitae 0 39 0 8 2 0 1 11
Illumina Clinical Services Laboratory,Illumina 0 7 0 3 1 0 0 4
GeneDx 0 6 0 2 0 0 1 3
Counsyl 0 2 0 2 0 0 0 2
CHU Sainte-Justine Research Center,University of Montreal 0 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 2 0 0 0 2
CFTR-France 0 1 0 2 0 0 0 2
OMIM 0 20 0 1 0 0 0 1
Baylor Genetics 0 9 0 1 0 0 0 1
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 2 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 3 0 1 0 0 0 1
Ambry Genetics 0 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 3 0 0 0 0 1 1
Mendelics 0 4 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 4 0 0 0 0 1 1
GeneReviews 0 6 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 0 0 1 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 0 1
Neurogenetics Laboratory,GH Pitie Salpetriere APHP 0 0 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 2 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 0 1
INGEBI, INGEBI / CONICET 0 0 0 0 1 0 0 1
Pars Genome Lab 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys) rs121913103
NM_000314.7(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525
NM_000371.3(TTR):c.70-9T>C rs764059061
NM_000492.3(CFTR):c.4272C>T (p.Tyr1424=) rs1800135
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000540.2(RYR1):c.983G>A (p.Arg328Gln) rs755875230
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_001029882.3(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001032221.6(STXBP1):c.325+2_325+3del rs1554776853
NM_001144967.3(NEDD4L):c.2677G>A (p.Glu893Lys)
NM_001163435.3(TBCK):c.2060-2A>G rs62321379
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178
NM_003482.3(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.3(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004321.7(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_004321.7(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_006009.4(TUBA1A):c.1177C>T (p.His393Tyr) rs1555162288
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_014927.5(CNKSR2):c.1282C>T (p.Arg428Ter) rs1064794022
NM_014946.4(SPAST):c.1496G>A rs878854991
NM_015243.2(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_017890.4(VPS13B):c.6002del (p.Pro2001fs) rs755125969
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_198056.2(SCN5A):c.3391-7T>C rs41310769
NM_198056.2(SCN5A):c.4404C>T (p.Val1468=) rs766197312
NM_198056.2(SCN5A):c.5367C>T (p.Asp1789=) rs375752426

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