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
27 15 0 13 0 0 3 15

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 8 2 1
likely pathogenic 5 0 1 0

Submitter to submitter summary #

Total submitters: 19
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
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 2 0 2 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1 2
OMIM 0 6 0 0 0 0 1 1
Revvity Omics, Revvity 0 2 0 1 0 0 0 1
Invitae 0 5 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
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 1 0 0 0 1
deCODE genetics, Amgen 0 0 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 0 4 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 0 0 1 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 15
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_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_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
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_000527.5(LDLR):c.1151A>C (p.Gln384Pro) rs879254807

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.