ClinVar Miner

Variants with conflicting interpretations between Genome Diagnostics Laboratory, Amsterdam University Medical Center and Fulgent Genetics, Fulgent Genetics

Minimum review status of the submission from Genome Diagnostics Laboratory, Amsterdam University Medical Center: Collection method of the submission from Genome Diagnostics Laboratory, Amsterdam University Medical Center:
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
535 31 0 8 0 0 0 8

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.

pathogenic likely benign benign
likely pathogenic 1 0 0
likely benign 0 0 3
benign 0 4 0

All variants with conflicting interpretations #

Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_198241.3(EIF4G1):c.4251C>T (p.Val1417=) rs76779558 0.01418
NM_004304.5(ALK):c.952+16C>T rs112736234 0.01371
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_013254.4(TBK1):c.541-9del rs369498196

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.