ClinVar Miner

Variants from Human Genomics Unit,Institute for molecular medicine Finland (FIMM) with conflicting interpretations

Location: Finland — Primary collection method: research
Minimum review status of the submission from Human Genomics Unit,Institute for molecular medicine Finland (FIMM): Collection method of the submission from Human Genomics Unit,Institute for molecular medicine Finland (FIMM):
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 Variants with at least 2 submissions 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 kind of conflict
15 0 0 6 1 1 4 9

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
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) pathogenic uncertain significance likely benign benign risk factor
likely pathogenic 5 2 3 3 0
uncertain significance 0 0 1 1 1
benign 0 0 1 0 0

Submitter to submitter summary #

Total submitters: 21
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
GeneDx 0 1 0 2 1 0 3 6
OMIM 0 0 0 4 0 1 0 5
Illumina Clinical Services Laboratory,Illumina 0 0 0 1 1 0 3 5
Invitae 0 1 0 1 1 0 2 4
ARUP Institute,ARUP Laboratories 0 0 0 3 0 0 1 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 2 3
Ambry Genetics 0 1 0 1 1 0 1 3
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 0 0 1 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 1 2
PreventionGenetics 0 1 0 0 1 0 1 2
Counsyl 0 0 0 0 1 0 1 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 0 1 0 1 2
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 0 0 0 2 2
Athena Diagnostics Inc 0 1 0 0 1 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 0 0 0 1 1
Vantari Genetics 0 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 0 0 0 0 1 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.4(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1831T>C (p.Cys611Arg) rs377767391
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859
NM_152754.2(SEMA3D):c.1272C>A (p.His424Gln) rs141893504
NM_207034.2(EDN3):c.565dup (p.Thr189Asnfs) rs11570344

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