ClinVar Miner

Variants with conflicting interpretations between SingHealth Duke-NUS Institute of Precision Medicine and Invitae

Minimum review status of the submission from SingHealth Duke-NUS Institute of Precision Medicine: Collection method of the submission from SingHealth Duke-NUS Institute of Precision Medicine:
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
9 11 0 10 6 1 3 20

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 benign other
likely pathogenic 8 0 0
uncertain significance 3 6 1
likely benign 0 2 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752
NM_000360.4(TH):c.714_715del (p.Leu239fs) rs1564918287
NM_000436.4(OXCT1):c.173C>T (p.Thr58Met) rs75134564
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436
NM_001163817.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954
NM_016729.3(FOLR1):c.493+2T>C rs144637717
NM_025243.4(SLC19A3):c.111del (p.Tyr38fs) rs1559252723
NM_030943.3(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203

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