ClinVar Miner

Variants from Albrecht-Kossel-Institute, Medical University Rostock with conflicting interpretations

Location: Germany  Primary collection method: research
Minimum review status of the submission from Albrecht-Kossel-Institute, Medical University Rostock: Collection method of the submission from Albrecht-Kossel-Institute, Medical University Rostock:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
0 17 0 13 3 16 9 29

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
Albrecht-Kossel-Institute, Medical University Rostock pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 12 2 0 0
likely pathogenic 1 0 6 0 0
uncertain significance 1 1 0 2 3
drug response 0 4 12 3 1

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
Genomenon, Inc, Genomenon, Inc 0 27 0 10 2 0 6 18
GeneDx 0 0 0 0 0 10 0 10
Ambry Genetics 0 0 0 0 0 9 0 9
Labcorp Genetics (formerly Invitae), Labcorp 0 10 0 2 2 0 5 9
Genome-Nilou Lab 0 3 0 2 2 0 3 7
Revvity Omics, Revvity 0 0 0 0 0 6 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 1 0 4 1 6
Color Diagnostics, LLC DBA Color Health 0 3 0 0 1 0 4 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 0 4 1 5
Fulgent Genetics, Fulgent Genetics 0 1 0 1 0 0 3 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 6 0 0 1 0 2 3
Eurofins Ntd Llc (ga) 0 0 0 0 0 3 0 3
Natera, Inc. 0 3 0 0 1 0 2 3
PreventionGenetics, part of Exact Sciences 0 0 0 0 0 3 0 3
All of Us Research Program, National Institutes of Health 0 2 0 0 0 0 2 2
CeGaT Center for Human Genetics Tuebingen 0 0 0 0 0 2 0 2
Gharavi Laboratory, Columbia University 0 0 0 0 0 2 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 0 2 0 2
Biochemistry Metabolomics and Proteomics Laboratory, Necker Enfants Malades Hospital 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 0 0 0 0 1 1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 0 0 0 0 1 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 0 0 0 1 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 0 0 0 1 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 0 1 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 0 1 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 0 0 1 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.361G>A (p.Ala121Thr) rs782197638 0.00001
NM_000169.3(GLA):c.62T>C (p.Leu21Pro) rs869312135 0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val) rs397515873 0.00001
NM_000169.3(GLA):c.104G>A (p.Gly35Glu) rs869312137
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.3(GLA):c.1067G>C (p.Arg356Pro) rs869312163
NM_000169.3(GLA):c.1124G>C (p.Gly375Ala) rs869312164
NM_000169.3(GLA):c.1176G>T (p.Arg392Ser) rs869312165
NM_000169.3(GLA):c.190A>T (p.Ile64Phe) rs869312139
NM_000169.3(GLA):c.212A>G (p.Glu71Gly) rs781927744
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.272T>A (p.Ile91Asn) rs869312141
NM_000169.3(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.3(GLA):c.540G>T (p.Leu180Phe) rs869312145
NM_000169.3(GLA):c.59C>A (p.Ala20Asp) rs869312134
NM_000169.3(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.3(GLA):c.638A>G (p.Lys213Arg) rs869312149
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.761T>C (p.Val254Ala) rs869312153
NM_000169.3(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.3(GLA):c.937G>A (p.Asp313Asn) rs28935490
NM_000169.3(GLA):c.947T>C (p.Val316Ala) rs869312157
NM_000169.3(GLA):c.968C>G (p.Pro323Arg) rs869312159
NM_000169.3(GLA):c.980A>G (p.Gln327Arg) rs869312160
NM_000169.3(GLA):c.98A>G (p.Asp33Gly) rs869312136

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