ClinVar Miner

Variants from Clinical Genetics Laboratory, Region Ostergotland with conflicting interpretations

Location: Sweden  Primary collection method: clinical testing
Minimum review status of the submission from Clinical Genetics Laboratory, Region Ostergotland: Collection method of the submission from Clinical Genetics Laboratory, Region Ostergotland:
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
30 20 0 21 0 0 7 24

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
Clinical Genetics Laboratory, Region Ostergotland pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 11 2 2
likely pathogenic 10 0 4 0

Submitter to submitter summary #

Total submitters: 34
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
Labcorp Genetics (formerly Invitae), Labcorp 0 7 0 3 0 0 0 3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 3 0 0 0 3
OMIM 0 10 0 1 0 0 1 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 2 0 0 0 2
Revvity Omics, Revvity 0 3 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 2 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 11 0 1 0 0 1 2
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 1 0 2 0 0 0 2
deCODE genetics, Amgen 0 0 0 2 0 0 0 2
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 1 0 1 0 0 0 1
Counsyl 0 0 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 4 0 1 0 0 0 1
LDLR-LOVD, British Heart Foundation 0 3 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 2 0 0 0 0 1 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 1 0 1 0 0 0 1
Robarts Research Institute, Western University 0 2 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
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 0 0 0 1 1
Iberoamerican FH Network 0 1 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 0 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 0 1 0 0 0 1
3billion, Medical Genetics 0 5 0 1 0 0 0 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 0 0 1 1
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 1 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 0 1 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 0 1 0 0 0 1
All of Us Research Program, National Institutes of Health 0 2 0 1 0 0 0 1
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 0 0 0 1 0 0 0 1
Pediatrics/Division of Genetics and Metabolism, University of Kentucky 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00003
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_020778.5(ALPK3):c.297del (p.Ile99fs) rs770674513 0.00002
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe) rs750844090
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000146.4(FTL):c.-164C>A rs398124637
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) rs727503203
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.506-1G>A rs397516056
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro) rs879254807
NM_000527.5(LDLR):c.1979A>G (p.Gln660Arg) rs879255095

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