ClinVar Miner

Variants from Northcott Neuroscience Laboratory, ANZAC Research Institute with conflicting interpretations

Location: Australia — Primary collection method: not provided
Minimum review status of the submission from Northcott Neuroscience Laboratory, ANZAC Research Institute: Collection method of the submission from Northcott Neuroscience Laboratory, ANZAC Research Institute:
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
11 2 4 13 12 1 9 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
Northcott Neuroscience Laboratory, ANZAC Research Institute pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 2 3 0 0 0
likely pathogenic 0 0 4 1 0 0
likely benign 0 0 5 0 5 0
benign 1 0 7 6 4 1

Submitter to submitter summary #

Total submitters: 18
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 4 4 2 3 0 2 11
Inherited Neuropathy Consortium 0 0 0 0 5 0 4 9
Mendelics 0 0 1 6 0 0 0 7
Illumina Clinical Services Laboratory,Illumina 0 0 0 5 0 0 1 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 2 4 0 0 6
Athena Diagnostics Inc 0 3 1 1 2 0 1 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 3 0 1 0 1 5
GeneDx 0 3 0 2 2 0 1 5
Genesis Genome Database 0 0 0 0 1 0 3 4
OMIM 0 3 0 0 0 1 1 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 0 2
Molecular Genetics Laboratory,London Health Sciences Centre 0 0 0 0 1 0 0 1
PreventionGenetics,PreventionGenetics 0 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 0 0 1 1
Weber Lab,Hannover Medical School 0 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 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.1079C>T (p.Ala360Val) rs587777884
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp) rs138081804
NM_001605.2(AARS1):c.2791G>A (p.Gly931Ser) rs149377346
NM_004082.4(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496
NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.4(NEFL):c.289C>T (p.Leu97Phe) rs587777888
NM_006158.4(NEFL):c.794A>G (p.Tyr265Cys) rs587777880
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) rs139200312
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) rs28941475
NM_015074.3(KIF1B):c.1977+6213G>T rs587777883
NM_015074.3(KIF1B):c.4073T>C (p.Val1358Ala) rs200561798
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642
NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_032667.6(BSCL2):c.975C>T (p.Ser325=) rs17850877

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