ClinVar Miner

Variants from National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center with conflicting interpretations

Location: Japan  Primary collection method: clinical testing
Minimum review status of the submission from National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center: Collection method of the submission from National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
17 1 0 2 0 40 0 42

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
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 1 0 0 0 0
affects 29 15 2 0 0
other 1 2 4 1 1

Submitter to submitter summary #

Total submitters: 31
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
Baylor Genetics 0 2 0 0 0 25 0 25
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center 0 2 0 0 0 16 0 16
Genome-Nilou Lab 0 2 0 0 0 15 0 15
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 8 0 9
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 0 0 0 0 0 9 0 9
King Laboratory, University of Washington 0 0 0 0 0 6 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 0 0 6 0 6
Illumina Laboratory Services, Illumina 0 0 0 0 0 5 0 5
3billion 0 1 0 0 0 4 0 4
OMIM 0 1 0 0 0 4 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 0 0 3 0 3
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 0 0 0 1 0 2 0 3
Department of Otolaryngology Head and Neck Surgery, Hainan Hospital of the Chinese People’s Liberation Army General Hospital 0 0 0 0 0 2 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 0 0 2 0 2
Keimyung University Dongsan Hospital, Keimyung University School of Medicine 0 0 0 1 0 1 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 0 0 2 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 0 0 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 0 1 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 0 0 0 0 1 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 0 0 0 0 0 1 0 1
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 0 0 0 0 0 1 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 0 0 0 0 1 0 1
Hearing and Balance Clinic, First Affliiated Hospital of Kunming Medical University 0 0 0 0 0 1 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 0 0 0 0 1 0 1
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo 0 0 0 0 0 1 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 0 0 0 0 1 0 1
Precision Medicine Center, Zhengzhou University 0 0 0 0 0 1 0 1
UAEU Genomics Laboratory, United Arab Emirates University 0 0 0 0 0 1 0 1
Variantyx, Inc. 0 1 0 0 0 1 0 1
Wonkam Laboratory, Johns Hopkins University 0 0 0 0 0 1 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00082
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416 0.00009
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00005
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00005
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256 0.00005
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002 0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761 0.00002
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176 0.00002
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670 0.00002
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855 0.00001
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203 0.00001
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu) rs749013429 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu) rs1399914687 0.00001
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly) rs1554352234 0.00001
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu) rs121908361
NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val) rs121908364
NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu) rs201660407
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) rs1554359670
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser) rs1554352676
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg) rs141142414
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser) rs984967571
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) rs756272252
NM_000441.2(SLC26A4):c.601-1G>A rs1554355011

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