ClinVar Miner

Variants from Laan Lab, Human Genetics Research Group, University of Tartu with conflicting interpretations

Location: Estonia  Primary collection method: research
Minimum review status of the submission from Laan Lab, Human Genetics Research Group, University of Tartu: Collection method of the submission from Laan Lab, Human Genetics Research Group, University of Tartu:
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
62 17 0 19 0 0 20 35

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
Laan Lab, Human Genetics Research Group, University of Tartu pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 12 6 2
likely pathogenic 7 0 13 3

Submitter to submitter summary #

Total submitters: 45
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
GeneDx 0 8 0 4 0 0 9 13
PreventionGenetics, part of Exact Sciences 0 5 0 4 0 0 4 8
Labcorp Genetics (formerly Invitae), Labcorp 0 10 0 2 0 0 5 7
CeGaT Center for Human Genetics Tuebingen 0 5 0 1 0 0 3 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 4 0 0 0 0 4 4
All of Us Research Program, National Institutes of Health 0 3 0 0 0 0 3 3
Eurofins Ntd Llc (ga) 0 3 0 1 0 0 2 3
Revvity Omics, Revvity 0 6 0 3 0 0 0 3
Ambry Genetics 0 4 0 1 0 0 1 2
Blueprint Genetics 0 1 0 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 0 0 2 2
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 2 0 0 0 2
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 1 0 0 1 2
Color Diagnostics, LLC DBA Color Health 0 2 0 0 0 0 2 2
Dasa 0 3 0 2 0 0 0 2
Fundacion Hipercolesterolemia Familiar 0 0 0 2 0 0 0 2
Iberoamerican FH Network 0 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 2 0 0 0 2
LDLR-LOVD, British Heart Foundation 0 0 0 2 0 0 0 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 2 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 3 0 1 0 0 1 2
OMIM 0 4 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 2 0 0 0 2
3billion 0 1 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 2 0 1 0 0 0 1
Baylor Genetics 0 5 0 1 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 1 0 0 0 1
Clinical Cancer Genomics Laboratory, City of Hope Comprehensive Cancer Center 0 0 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 4 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 0 0 1 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 1 1
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 0 0 0 1 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 1 0 0 0 1
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 3 0 1 0 0 0 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 0 1 0 0 0 1
Robarts Research Institute, Western University 0 0 0 1 0 0 0 1
Sharing Clinical Reports Project (SCRP) 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001321739.2(M1AP):c.676dup (p.Trp226fs) rs144217347 0.00238
NM_138289.4(ACTRT1):c.547dup (p.Met183fs) rs771087307 0.00186
NM_031272.5(TEX14):c.1003C>T (p.Arg335Ter) rs141801212 0.00112
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg) rs199761861 0.00016
NM_130768.3(ASZ1):c.460A>G (p.Met154Val) rs186384831 0.00014
NM_006080.3(SEMA3A):c.1450C>T (p.Arg484Trp) rs137871935 0.00013
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00012
NM_003865.3(HESX1):c.326G>A (p.Arg109Gln) rs768165720 0.00011
NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser) rs149992595 0.00010
NM_004959.5(NR5A1):c.593C>T (p.Pro198Leu) rs774216266 0.00007
NM_032656.4(DHX37):c.1156G>A (p.Gly386Ser) rs780020505 0.00006
NM_020937.4(FANCM):c.1491dup (p.Gln498fs) rs797045116 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 0.00004
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu) rs137929307 0.00003
NM_000044.6(AR):c.1723C>G (p.Leu575Val) rs376443652 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000540.3(RYR1):c.10347+1G>A rs111436401 0.00002
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) rs794728291 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp) rs121908043 0.00001
NM_001374353.1(GLI2):c.1253A>G (p.Tyr418Cys) rs759585885 0.00001
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln) rs781431741 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_017780.4(CHD7):c.6194G>A (p.Arg2065His) rs1197494895 0.00001
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp) rs199473662
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_001042492.3(NF1):c.4348G>T (p.Ala1450Ser) rs2151462979
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys) rs141090506
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418

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