ClinVar Miner

Variants in gene ETFDH with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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 Variants with at least 2 submissions 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 kind of conflict
111 10 0 10 3 0 4 17

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 6 2 0 0
likely pathogenic 6 0 2 0 0
uncertain significance 2 2 0 2 1
likely benign 0 0 2 0 4
benign 0 0 1 4 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421
NM_004453.4(ETFDH):c.1468+15A>C rs146561214
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) rs143015234
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu) rs200920510
NM_004453.4(ETFDH):c.1690+15C>T rs11931339
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) rs767795266
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) rs121964956
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633
NM_004453.4(ETFDH):c.405+3A>T rs796051965
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449
NM_004453.4(ETFDH):c.832-10T>G rs200911913
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala) rs182144074

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