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
99 28 0 43 0 0 10 50

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 23 0 0
likely pathogenic 20 0 7 1
uncertain significance 1 1 0 0

Submitter to submitter summary #

Total submitters: 28
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
Sharon lab, Hadassah-Hebrew University Medical Center 0 9 0 6 0 0 0 6
Mendelics 0 3 0 3 0 0 2 5
3billion 0 3 0 5 0 0 0 5
OMIM 0 4 0 4 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 10 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 6 0 2 0 0 2 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 7 0 3 0 0 0 3
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 2 0 3 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 1 0 0 2 3
MGZ Medical Genetics Center 0 9 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 2 0 0 0 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 11 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 2 0 0 0 2
Arcensus 0 0 0 2 0 0 0 2
Baylor Genetics 0 2 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 0 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648 0.00034
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424 0.00024
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205 0.00005
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp) rs61751395 0.00004
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785 0.00004
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573 0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384 0.00002
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398 0.00001
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414 0.00001
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997 0.00001
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459 0.00001
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935 0.00001
NM_000350.3(ABCA4):c.4352+1G>A rs200967229 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.5018+2T>C rs61750562 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000350.3(ABCA4):c.1357-2A>G rs886044726
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu) rs886044746
NM_000350.3(ABCA4):c.5196+1056A>G rs886044749
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046

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