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 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
15 4 7 6 6 1 6 20

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 0 2 0 0 0
likely pathogenic 0 1 2 3 0 0
likely benign 0 0 2 2 0 0
benign 1 0 4 6 4 1

Submitter to submitter summary #

Total submitters: 26
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
GeneDx 0 0 4 1 3 0 2 10
CeGaT Center for Human Genetics Tuebingen 0 0 2 3 3 0 1 9
Athena Diagnostics Inc 0 1 2 0 4 0 1 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 3 2 1 0 1 7
Clinical Genetics, Academic Medical Center 0 0 2 2 0 0 2 6
PreventionGenetics, part of Exact Sciences 0 0 0 1 3 0 1 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 0 0 2 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 1 0 2 3
Ambry Genetics 0 0 0 1 0 0 1 2
Revvity Omics, Revvity 0 0 0 0 1 0 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 0 0 2 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 2 0 0 0 0 2
OMIM 0 2 0 0 0 1 0 1
Genetic Services Laboratory, University of Chicago 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 0 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 0 0 0 0 0 1 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 0 1
DASA 0 0 0 0 0 0 1 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00718
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00287
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala) rs200561798 0.00022
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) rs139200312 0.00015
NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg) rs200595164 0.00011
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr) rs374098797 0.00009
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231 0.00004
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642 0.00004
NM_001365951.3(KIF1B):c.2115+6213G>T rs587777883 0.00003
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879 0.00001
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys) rs587777880
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) rs28941475

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