ClinVar Miner

Variants with conflicting interpretations between Athena Diagnostics Inc and Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
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
52 55 0 10 11 0 0 21

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.

uncertain significance likely benign benign
uncertain significance 0 2 0
likely benign 5 0 4
benign 4 6 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_000540.2(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_002160.4(TNC):c.1342C>G (p.Arg448Gly) rs145086096
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_004452.3(ESRRB):c.1427G>A (p.Arg476His) rs200237229
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836
NM_020956.2(PRX):c.*3701C>T rs147826200
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_144773.3(PROKR2):c.518T>G (p.Leu173Arg) rs74315416
NM_182914.2(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622
m.3308T>C rs28358582

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.