ClinVar Miner

Variants with conflicting interpretations between Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and Illumina Clinical Services Laboratory,Illumina

Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
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
24 13 0 3 7 0 5 15

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

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) rs74315448
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
Single allele

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