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
509 45 1 7 4 0 10 20

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 1 5 1 0 0
likely pathogenic 2 0 5 0 0
uncertain significance 3 2 0 2 3

Submitter to submitter summary #

Total submitters: 13
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 16 0 1 3 0 4 8
OMIM 0 9 0 1 0 0 2 3
Mendelics 0 0 0 0 1 0 1 2
GeneReviews 0 0 1 0 0 0 1 2
Illumina Clinical Services Laboratory,Illumina 0 9 0 0 2 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 2 0 0 0 2
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 4 0 1 0 0 0 1
Blueprint Genetics 0 3 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 4 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000218.2(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000335.4(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616
NM_000335.5(SCN5A):c.4009CTC[1] (p.Leu1338del) rs1559732656
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del) rs794728922
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000891.2(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) rs74315448
NM_181798.1(KCNQ1):c.1381A>T (p.Ile461Phe) rs794728536
NM_181798.1(KCNQ1):c.143_153dup (p.Gly52fs) rs763462603
NM_181798.1(KCNQ1):c.496C>T (p.Arg166Cys) rs199472737
NM_181798.1(KCNQ1):c.635T>C (p.Phe212Ser) rs199472759
NM_198056.2(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565

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