ClinVar Miner

Variants from Center for Molecular Medicine, Children’s Hospital of Fudan University with conflicting interpretations

Location: China  Primary collection method: clinical testing
Minimum review status of the submission from Center for Molecular Medicine, Children’s Hospital of Fudan University: Collection method of the submission from Center for Molecular Medicine, Children’s Hospital of Fudan University:
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
146 40 0 25 0 0 8 33

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
Center for Molecular Medicine, Children’s Hospital of Fudan University pathogenic likely pathogenic uncertain significance
pathogenic 0 11 0
likely pathogenic 14 0 6
uncertain significance 0 1 0
benign 1 1 0

Submitter to submitter summary #

Total submitters: 40
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
Invitae 0 14 0 10 0 0 4 14
Baylor Genetics 0 14 0 6 0 0 1 7
Genome-Nilou Lab 0 1 0 2 0 0 3 5
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center 0 0 0 4 0 0 0 4
OMIM 0 13 0 3 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 5 0 2 0 0 1 3
Illumina Laboratory Services, Illumina 0 3 0 2 0 0 1 3
ClinGen PAH Variant Curation Expert Panel 0 5 0 3 0 0 0 3
Natera, Inc. 0 6 0 1 0 0 1 2
Mendelics 0 1 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 2 0 0 0 2
Lifecell International Pvt. Ltd 0 1 0 2 0 0 0 2
GeneDx 0 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 1 0 0 0 1
Revvity Omics, Revvity 0 5 0 0 0 0 1 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 1 0 0 0 1
MGZ Medical Genetics Center 0 2 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 2 0 1 0 0 0 1
Counsyl 0 2 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 2 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 0 1 1
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 1 0 0 0 1
Myriad Genetics, Inc. 0 4 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 0 1 0 0 0 1
3billion 0 6 0 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154 0.00022
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg) rs117830543 0.00006
NM_000507.4(FBP1):c.355G>A (p.Asp119Asn) rs758609113 0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser) rs121918188 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) rs1057516262 0.00001
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) rs121908429 0.00001
NM_001558.4(IL10RA):c.537G>A (p.Thr179=) rs1419560997 0.00001
NM_020686.6(ABAT):c.538C>T (p.Arg180Trp) rs746589996 0.00001
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)
NM_000170.3(GLDC):c.560C>G (p.Thr187Arg) rs386833582
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys) rs1488232864
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly) rs1592947508
NM_000277.3(PAH):c.1304A>T (p.Asp435Val) rs1592945394
NM_000478.6(ALPL):c.406C>T (p.Arg136Cys) rs747762186
NM_000481.4(AMT):c.992G>A (p.Arg331Gln) rs1368099067
NM_000507.4(FBP1):c.704del (p.Pro235fs) rs774362519
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000548.5(TSC2):c.2774A>G (p.Asp925Gly) rs1555508942
NM_001032221.6(STXBP1):c.326-1G>T rs1554776948
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001367916.1(MAGT1):c.490G>T (p.Glu164Ter) rs2149018425
NM_001375380.1(EBF3):c.454C>T (p.Arg152Cys) rs2134623972
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg) rs1085307709
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser) rs1555778797
NM_003072.5(SMARCA4):c.3986G>A (p.Arg1329His) rs1555785361
NM_004218.4(RAB11B):c.64G>A (p.Val22Met) rs1555690779
NM_018129.4(PNPO):c.481C>T (p.Arg161Cys) rs146027425
NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter) rs1580394197

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