ClinVar Miner

Variants from Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg: Collection method of the submission from Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg:
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
114 24 0 33 0 0 8 39

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, Univ. Regensburg,Univ. Regensburg pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 20 1 0
likely pathogenic 13 0 4 1
uncertain significance 1 1 0 0

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
Institute of Medical Molecular Genetics, University of Zurich 0 9 0 12 0 0 1 13
NIHR Bioresource Rare Diseases, University of Cambridge 0 6 0 8 0 0 0 8
Ocular Genomics Institute, Massachusetts Eye and Ear 0 8 0 4 0 0 3 7
Mendelics 0 2 0 3 0 0 3 6
Sharon lab,Hadassah-Hebrew University Medical Center 0 9 0 6 0 0 0 6
OMIM 0 4 0 4 0 0 0 4
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 10 0 4 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 6 0 2 0 0 0 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 2 0 0 0 2
Human Genetics - Radboudumc,Radboudumc 0 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 2 0 0 0 2
Baylor Genetics 0 2 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1357-2A>G rs886044726
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573
NM_000350.3(ABCA4):c.4352+1G>A rs200967229
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu) rs886044746
NM_000350.3(ABCA4):c.5018+2T>C rs61750562
NM_000350.3(ABCA4):c.5196+1056A>G rs886044749
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944

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