ClinVar Miner

Variants with conflicting interpretations between Athena Diagnostics Inc and Stanford Center for Inherited Cardiovascular Disease,Stanford University

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
1 15 0 8 14 0 2 24

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 pathogenic uncertain significance likely benign
pathogenic 0 3 0 0
likely pathogenic 2 0 1 0
uncertain significance 0 1 0 0
likely benign 0 0 4 0
benign 0 0 10 3

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382
NM_000527.4(LDLR):c.313+1G>A
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys) rs140664731
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807
NM_004980.4(KCND3):c.1456A>G (p.Thr486Ala) rs149008060
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro) rs397517902
NM_172244.3(SGCD):c.717C>G (p.Asp239Glu) rs180898690
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771
m.7468C>T rs111033173

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.