ClinVar Miner

Variants from Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues: Collection method of the submission from Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues:
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
942 119 0 28 8 0 22 54

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 Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 15 3 0 0
likely pathogenic 13 0 11 0 0
uncertain significance 7 5 0 6 2

Submitter to submitter summary #

Total submitters: 33
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 34 0 8 5 0 7 20
OMIM 0 12 0 2 0 0 5 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 7 0 4 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 2 0 0 1 3
Mendelics 0 0 0 0 1 0 2 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 0 1 0 0 2 3
SIB Swiss Institute of Bioinformatics 0 0 0 3 0 0 0 3
Illumina Laboratory Services, Illumina 0 12 0 0 2 0 0 2
Molecular Genetics Lab, CHRU Brest 0 0 0 1 0 0 1 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 0 0 0 2 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 0 1 0 0 1 2
Baylor Genetics 0 4 0 0 0 0 1 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 0 0 1 1
Revvity Omics, Revvity 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 4 0 1 0 0 0 1
MGZ Medical Genetics Center 0 6 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 1 0 0 0 1
Blueprint Genetics 0 5 0 0 0 0 1 1
Center for Medical Genetics Ghent, University of Ghent 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 6 0 0 0 0 1 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 4 0 0 0 0 1 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 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 0 0 0 1 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 0 0 0 1 1
Medical Genetics Laboratory, Gulhane Training and Research Hospital 0 0 0 0 0 0 1 1
3billion 0 1 0 0 0 0 1 1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199 0.00109
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys) rs372048968 0.00016
NM_001035.3(RYR2):c.1511G>A (p.Arg504His) rs201600087 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter) rs765769406 0.00002
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val) rs199473534 0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp) rs768704768 0.00001
NM_001134407.3(GRIN2A):c.964G>A (p.Gly322Arg) rs374637415 0.00001
NM_001609.4(ACADSB):c.303+3A>G rs1345480688 0.00001
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly) rs760916142 0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val) rs1131692326
NM_000092.5(COL4A4):c.2654G>A (p.Gly885Asp) rs1425028482
NM_000159.4(GCDH):c.446T>C (p.Met149Thr) rs2145944429
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe) rs794728536
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs) rs763462603
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu) rs199472938
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile) rs199473018
NM_000312.4(PROC):c.632G>A (p.Arg211Gln) rs199469476
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys) rs374292194
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln) rs1553328170
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr) rs1663793007
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys) rs1558698334
NM_001035.3(RYR2):c.6899A>G (p.Asp2300Gly) rs1681104142
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001110556.2(FLNA):c.3965C>T (p.Thr1322Met)
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser) rs1559602593
NM_002860.4(ALDH18A1):c.232G>A (p.Gly78Ser)
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter) rs2151730563
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)
NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=) rs2132793967
NM_052867.4(NALCN):c.3064A>G (p.Ile1022Val) rs1555381108
NM_130839.5(UBE3A):c.1742A>G (p.Asn581Ser) rs587784517
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr) rs1600751236

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