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

Minimum review status of the submission from Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version: 2024-06-30

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 #

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	9	0	1	0	0	2	3
Athena Diagnostics	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 #

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