ClinVar Miner

Variants from Klaassen Lab, Charite University Medicine Berlin with conflicting interpretations

Location: Germany  Primary collection method: research
Minimum review status of the submission from Klaassen Lab, Charite University Medicine Berlin: Collection method of the submission from Klaassen Lab, Charite University Medicine Berlin:
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
76 10 0 8 3 0 9 18

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
Klaassen Lab, Charite University Medicine Berlin pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 4 3 0
likely pathogenic 4 0 6 0
uncertain significance 0 0 0 3

Submitter to submitter summary #

Total submitters: 17
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
GeneDx 0 6 0 3 1 0 5 9
Ambry Genetics 0 9 0 2 0 0 4 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1 0 0 2 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 1 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 2 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 3 0 1 0 0 1 2
AiLife Diagnostics, AiLife Diagnostics 0 1 0 1 0 0 1 2
PreventionGenetics, part of Exact Sciences 0 1 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 0 0 1 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 1 0 0 1
Invitae 0 1 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 0 0 1 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 1 1
New York Genome Center 0 0 0 1 0 0 0 1
All of Us Research Program, National Institutes of Health 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys) rs140148322 0.00036
NM_033118.4(MYLK2):c.425G>T (p.Gly142Val) rs56385445 0.00006
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) rs730880551 0.00001
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn) rs397516348 0.00001
NM_001103.4(ACTN2):c.574C>T (p.Arg192Ter) rs1253211384 0.00001
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642 0.00001
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1283C>A (p.Ala428Asp) rs727503266
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter) rs1554008881
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_144573.4(NEXN):c.1878dup (p.Asp627fs) rs2102181621

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