ClinVar Miner

Variants from Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences with conflicting interpretations

Location: Japan  Primary collection method: research
Minimum review status of the submission from Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences: Collection method of the submission from Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences:
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
36 19 0 6 1 0 7 14

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
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 5 2 0
likely pathogenic 1 0 4 0
uncertain significance 1 0 0 1

Submitter to submitter summary #

Total submitters: 13
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 12 0 1 0 0 2 3
Athena Diagnostics Inc 0 5 0 0 0 0 2 2
Revvity Omics, Revvity 0 3 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 0 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 1 1
Genome-Nilou Lab 0 2 0 1 0 0 0 1
3billion 0 3 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025 0.00002
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_002529.4(NTRK1):c.2303C>T (p.Pro768Leu) rs756981419 0.00001
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter) rs1802495428
NM_000334.4(SCN4A):c.1762A>G (p.Ile588Val) rs2144798704
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.3445G>T (p.Val1149Leu) rs1908692348
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His) rs748517635
NM_000334.4(SCN4A):c.5104GAG[1] (p.Glu1703del) rs1464481652
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820
NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg) rs1599366076
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr) rs80356677

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