ClinVar Miner

Variants from Institute for Genomic Medicine, Nationwide Children's Hospital with conflicting interpretations

Location: United States  Primary collection method: research
Minimum review status of the submission from Institute for Genomic Medicine, Nationwide Children's Hospital: Collection method of the submission from Institute for Genomic Medicine, Nationwide Children's Hospital:
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
14 7 0 4 0 0 6 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
Institute for Genomic Medicine, Nationwide Children's Hospital pathogenic uncertain significance benign
pathogenic 0 1 0
likely pathogenic 4 4 2
uncertain significance 1 0 0

Submitter to submitter summary #

Total submitters: 16
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
OMIM 0 1 0 4 0 0 0 4
Revvity Omics, Revvity 0 2 0 0 0 0 2 2
Invitae 0 3 0 0 0 0 2 2
Mendelics 0 0 0 0 0 0 2 2
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 2 2
Genome-Nilou Lab 0 1 0 0 0 0 2 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 0 1 1
GeneDx 0 1 0 0 0 0 1 1
MGZ Medical Genetics Center 0 0 0 0 0 0 1 1
Natera, Inc. 0 1 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
Color Diagnostics, LLC DBA Color Health 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 0 0 1 1
All of Us Research Program, National Institutes of Health 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) rs146539065 0.00004
NM_001457.4(FLNB):c.5375_5377del (p.Glu1792del) rs1470699812
NM_004333.6(BRAF):c.1794_1796dup (p.Thr599dup) rs727502902
NM_007255.3(B4GALT7):c.398A>G (p.Gln133Arg) rs1370937766
NM_020791.4(TAOK1):c.2203del (p.Arg735fs) rs2150772064
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs) rs756408696
NM_032608.7(MYO18B):c.6768del (p.Leu2257fs) rs1569308524

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.