ClinVar Miner

Variants from Kids Neuroscience Centre, Sydney Children's Hospitals Network with conflicting interpretations

Location: Australia  Primary collection method: clinical testing
Minimum review status of the submission from Kids Neuroscience Centre, Sydney Children's Hospitals Network: Collection method of the submission from Kids Neuroscience Centre, Sydney Children's Hospitals Network:
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
40 15 0 8 2 0 5 14

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
Kids Neuroscience Centre, Sydney Children's Hospitals Network pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 0 0 0
likely pathogenic 5 0 3 1 1
uncertain significance 1 1 0 1 1

Submitter to submitter summary #

Total submitters: 12
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
Invitae 0 2 0 3 1 0 2 6
Revvity Omics, Revvity 0 1 0 1 0 0 1 2
Natera, Inc. 0 3 0 0 1 0 1 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 12 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 2 2
Baylor Genetics 0 1 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1 1
Counsyl 0 0 0 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1 1
Genome-Nilou Lab 0 2 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511 0.00008
NM_025137.4(SPG11):c.2317-13C>G rs372670941 0.00002
NM_001111125.3(IQSEC2):c.3396C>T (p.Gly1132=) rs782725826 0.00001
NM_018075.5(ANO10):c.1163-9A>G rs1368543726 0.00001
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg) rs2040074214
NM_001010867.4(IBA57):c.262dup (p.Ala88fs) rs1558123212
NM_001029896.2(WDR45):c.827+5G>C rs1557083956
NM_001042492.3(NF1):c.59A>C (p.Gln20Pro) rs1598173901
NM_001080517.3(SETD5):c.960-5C>G rs2125193661
NM_006493.4(CLN5):c.173+5G>A rs2034192763

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.