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 Variants with at least 2 submissions 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 kind of conflict
63 15 4 33 0 0 1 36

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
pathogenic 4 12 0
likely pathogenic 21 0 1

Submitter to submitter summary #

Total submitters: 21
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Counsyl 0 19 0 15 0 0 0 15
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 15 0 11 0 0 0 11
OMIM 0 6 0 10 0 0 0 10
GeneReviews 0 0 4 5 0 0 0 9
GeneDx 0 10 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 3 0 4 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 4 0 3 0 0 0 3
Fulgent Genetics 0 4 0 3 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 3 0 0 0 3
Illumina Clinical Services Laboratory,Illumina 0 1 0 3 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 5 0 1 0 0 1 2
Integrated Genetics/Laboratory Corporation of America 0 8 0 2 0 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 8 0 2 0 0 0 2
Kasturba Medical College,Manipal University 0 0 0 2 0 0 0 2
Athena Diagnostics Inc 0 4 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 4 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 1 0 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel, 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_000218.2(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000441.1(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.1(SLC26A4):c.1226G>A (p.Arg409His) rs111033305
NM_000441.1(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.1(SLC26A4):c.1520delT (p.Leu507Terfs) rs786204601
NM_000441.1(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203
NM_000441.1(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.1(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925
NM_000441.1(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363
NM_000441.1(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.1(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.1(SLC26A4):c.281C>T (p.Thr94Ile) rs1057516953
NM_000441.1(SLC26A4):c.578C>T rs111033348
NM_000441.1(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205
NM_000441.1(SLC26A4):c.918+2T>C rs912147281
NM_000441.1(SLC26A4):c.919-2A>G rs111033313
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115
NM_001201397.1(EDNRB):c.327C>A (p.Cys109Ter)
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_004004.5(GJB2):c.235delC (p.Leu79Cysfs) rs80338943
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.35dup (p.Val13Cysfs) 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.Ala171Glufs) rs773528125
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710
NM_012130.3(CLDN14):c.694G>A (p.Gly232Arg) rs786204841
NM_033056.3(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342
NM_033056.3(PCDH15):c.7C>T (p.Arg3Ter) rs137853001
NM_138691.2(TMC1):c.236+1G>A rs775428246
NM_194248.2(OTOF):c.4227+1G>T rs397515601
NM_198159.2(MITF):c.1013+1G>A

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