ClinVar Miner

Variants from Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde with conflicting interpretations

Location: Portugal — Primary collection method: research
Minimum review status of the submission from Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde: Collection method of the submission from Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde:
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
31 15 1 9 12 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
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 9 5 0 0
uncertain significance 0 2 0 11 8

Submitter to submitter summary #

Total submitters: 25
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
Invitae 0 16 0 0 12 0 1 13
Athena Diagnostics Inc 0 6 0 1 6 0 1 8
GeneDx 0 7 0 1 6 0 0 7
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 3 0 3 2 0 0 5
SIB Swiss Institute of Bioinformatics 0 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 1 0 1 1 0 0 2
Counsyl 0 0 0 0 1 0 1 2
Illumina Clinical Services Laboratory,Illumina 0 3 0 0 1 0 1 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 2 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 9 0 2 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 0 1
PreventionGenetics,PreventionGenetics 0 0 0 0 1 0 0 1
Institute of Human Genetics,Cologne University 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 0 0 1
GeneReviews 0 0 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 1 0 1 0 0 0 1
Inherited Neuropathy Consortium 0 0 0 0 1 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 0 0 1
Raymond Lab,University of Cambridge 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130
NM_001256047.1(C19orf12):c.124G>A (p.Gly42Arg) rs200133991
NM_002361.4(MAG):c.452C>T (p.Ala151Val) rs144553163
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter) rs562890289
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln) rs912983346
NM_004321.7(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr) rs142056835
NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg) rs118037269
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp) rs202232792
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) rs761089024
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu) rs200706696
NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp) rs398123012
NM_020944.3(GBA2):c.2618G>A (p.Arg873His) rs398123015
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720
NM_144599.5(NIPA1):c.24_26GGC[10] (p.Ala15_Ala16dup) rs531550505

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