ClinVar Miner

Variants from Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital with conflicting interpretations

Location: China — Primary collection method: case-control
Minimum review status of the submission from Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital: Collection method of the submission from Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital:
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
137 20 5 23 1 8 2 32

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
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital pathogenic likely pathogenic uncertain significance benign affects
pathogenic 5 6 1 0 2
likely pathogenic 15 0 1 0 6
uncertain significance 0 0 0 1 0
likely benign 0 0 0 3 0

Submitter to submitter summary #

Total submitters: 22
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
GeneReviews 0 0 5 4 0 0 0 9
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 0 0 0 1 0 8 0 9
OMIM 0 8 0 8 0 0 0 8
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 0 3 0 6 0 0 0 6
Natera, Inc. 0 7 0 3 1 0 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 4 0 4 0 0 0 4
Counsyl 0 2 0 3 0 0 0 3
Illumina Clinical Services Laboratory,Illumina 0 5 0 3 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 5 0 1 0 0 1 2
Integrated Genetics/Laboratory Corporation of America 0 7 0 2 0 0 0 2
Myriad Women's Health, Inc. 0 4 0 2 0 0 0 2
Baylor Genetics 0 4 0 1 0 0 0 1
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 6 0 1 0 0 0 1
Mendelics 0 1 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 1 0 0 0 1
Kasturba Medical College, Manipal University 0 1 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000441.1(SLC26A4):c.578C>T rs111033348
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter) rs768126403
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg) rs786204841
NM_001354604.2(MITF):c.1230G>A (p.Thr410=) rs1057521096
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710
NM_005422.2(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158
NM_006941.4(SOX10):c.482G>A (p.Arg161His)
NM_144612.6(LOXHD1):c.6413G>A (p.Arg2138Gln) rs148468627
NM_144773.3(PROKR2):c.991G>A (p.Val331Met) rs117106081
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter) rs1356246522
NM_194248.2(OTOF):c.4227+1G>T rs397515601

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