ClinVar Miner

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

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Institute of Human Genetics, Heidelberg University: Collection method of the submission from Institute of Human Genetics, Heidelberg 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
49 18 0 16 0 0 5 19

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, Heidelberg University pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 7 3 1
likely pathogenic 9 0 2 0

Submitter to submitter summary #

Total submitters: 30
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 4 0 3 0 0 2 5
Baylor Genetics 0 7 0 4 0 0 0 4
OMIM 0 11 0 3 0 0 0 3
Counsyl 0 2 0 2 0 0 1 3
Mendelics 0 1 0 3 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 4 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 1 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 1 0 0 1 2
Institute of Human Genetics, University of Leipzig Medical Center 0 5 0 1 0 0 1 2
Myriad Genetics, Inc. 0 0 0 1 0 0 1 2
3billion 0 3 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 1 0 1 0 0 0 1
MGZ Medical Genetics Center 0 5 0 0 0 0 1 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 4 0 1 0 0 0 1
GeneReviews 0 6 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 3 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 0 0 0 1 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914 0.00002
NM_000346.4(SOX9):c.508C>G (p.Pro170Ala) rs866706988
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001101.5(ACTB):c.490C>T (p.Pro164Ser) rs1784814856
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001378615.1(CC2D2A):c.4315-6_4315-3del rs926806639
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586
Single allele

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