ClinVar Miner

Variants from Institute of Human Genetics, University of Wuerzburg with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Institute of Human Genetics, University of Wuerzburg: Collection method of the submission from Institute of Human Genetics, University of Wuerzburg:
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
371 19 0 4 4 0 8 16

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
Institute of Human Genetics, University of Wuerzburg pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 2 0 0
likely pathogenic 2 0 5 0
uncertain significance 3 1 0 4

Submitter to submitter summary #

Total submitters: 11
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 8 0 2 3 0 5 10
GeneDx 0 5 0 0 1 0 1 2
Athena Diagnostics Inc 0 0 0 0 0 0 1 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 0 0 1 1
Ambry Genetics 0 1 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 0 1 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 0 0 0 0 0 1 1
Color Diagnostics, LLC DBA Color Health 0 1 0 0 0 0 1 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.8535A>G (p.Lys2845=) rs149395405 0.00042
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_015295.3(SMCHD1):c.3802-12T>C rs199707863 0.00005
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile) rs146202502 0.00002
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.1454C>T (p.Ala485Val) rs886044912 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000478.6(ALPL):c.530C>T (p.Ala177Val) rs1114167438 0.00001
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs) rs1595846344
NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu) rs730881080
NM_000478.6(ALPL):c.472+5G>C rs1558549099
NM_000478.6(ALPL):c.793-10T>C rs1114167436
NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del) rs1553414078
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter) rs148395034

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