ClinVar Miner

Variants from Institute of Rare Diseases, West China Hospital, Sichuan University with conflicting interpretations

Location: China  Primary collection method: research
Minimum review status of the submission from Institute of Rare Diseases, West China Hospital, Sichuan University: Collection method of the submission from Institute of Rare Diseases, West China Hospital, Sichuan University:
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
990 11 0 10 0 0 21 30

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
Institute of Rare Diseases, West China Hospital, Sichuan University pathogenic likely pathogenic uncertain significance
pathogenic 0 8 3
likely pathogenic 2 0 18

Submitter to submitter summary #

Total submitters: 20
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
Molecular Diagnosis Center for Deafness 0 0 0 0 0 0 5 5
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 0 0 0 0 5 5
Illumina Laboratory Services, Illumina 0 0 0 0 0 0 4 4
Fulgent Genetics, Fulgent Genetics 0 1 0 2 0 0 0 2
Hereditary Deafness Genetic Testing Group, The First Affiliated Hospital of Zhengzhou University 0 4 0 2 0 0 0 2
3billion 0 1 0 0 0 0 1 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 0 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 0 1 0 0 0 1
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 0 0 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 0 0 1 1
ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Iran University of Medical Sciences 0 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 1 0 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 0 1 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 0 0 0 0 1 1
MVZ Medizinische Genetik Mainz 0 1 0 1 0 0 0 1
Natera, Inc. 0 1 0 1 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00008
NM_001145026.2(PTPRQ):c.6556C>T (p.Arg2186Ter) rs933245871 0.00007
NM_001384474.1(LOXHD1):c.2245-13G>A rs749554659 0.00003
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) rs111534474 0.00002
NM_001038603.3(MARVELD2):c.782G>A (p.Gly261Glu) rs556959034 0.00001
NM_016239.4(MYO15A):c.3866C>T (p.Pro1289Leu) rs192483691 0.00001
NM_016239.4(MYO15A):c.6397A>G (p.Asn2133Asp) rs769491829 0.00001
NM_022124.6(CDH23):c.553G>A (p.Gly185Ser) rs375465342 0.00001
NM_022124.6(CDH23):c.8012G>A (p.Gly2671Asp) rs779222449 0.00001
NM_138691.3(TMC1):c.596A>G (p.Asn199Ser) rs756960425 0.00001
NM_000441.2(SLC26A4):c.2235+2T>A
NM_001145026.2(PTPRQ):c.5239C>T (p.Arg1747Ter)
NM_001378609.3(OTOGL):c.6787C>T (p.Arg2263Ter)
NM_001384474.1(LOXHD1):c.4595_4605del (p.Asp1532fs)
NM_001384474.1(LOXHD1):c.6050-2A>C
NM_005797.4(MPZL2):c.2T>C (p.Met1Thr)
NM_006941.4(SOX10):c.334A>G (p.Met112Val) rs1555939439
NM_016239.4(MYO15A):c.3926A>T (p.Gln1309Leu) rs777366131
NM_016239.4(MYO15A):c.5036G>A (p.Cys1679Tyr) rs2142328201
NM_016239.4(MYO15A):c.6011C>T (p.Pro2004Leu)
NM_016239.4(MYO15A):c.6620C>T (p.Pro2207Leu) rs876657903
NM_016239.4(MYO15A):c.6716A>C (p.His2239Pro) rs760577812
NM_016239.4(MYO15A):c.7966+1G>A
NM_016239.4(MYO15A):c.8378C>A (p.Ser2793Tyr)
NM_016239.4(MYO15A):c.8459+1G>A
NM_016239.4(MYO15A):c.8681T>C (p.Ile2894Thr) rs2142386490
NM_022124.6(CDH23):c.3371T>G (p.Leu1124Arg) rs2132800007
NM_022124.6(CDH23):c.6238G>C (p.Glu2080Gln)
NM_194248.3(OTOF):c.5108G>T (p.Arg1703Leu) rs529721333
NM_194248.3(OTOF):c.5109_5110insTTC (p.Arg1703_Leu1704insPhe) rs2148023735

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