ClinVar Miner

Variants with conflicting interpretations studied for EHHADH-related condition

Minimum review status of the submission for EHHADH-related condition: Collection method of the submission for EHHADH-related condition:
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
27 14 0 4 25 0 0 28

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.

All conditions
EHHADH-related condition uncertain significance benign
likely benign 25 4

Condition to condition summary #

Total conditions: 2
Download table as spreadsheet
Condition 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
not provided 0 8 0 4 24 0 0 27
not specified 0 10 0 0 2 0 0 2

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001966.4(EHHADH):c.1666A>G (p.Arg556Gly) rs140735525 0.00159
NM_001966.4(EHHADH):c.983C>T (p.Ser328Leu) rs144464757 0.00095
NM_001966.4(EHHADH):c.450C>T (p.Asp150=) rs116162834 0.00091
NM_001966.4(EHHADH):c.1804C>T (p.Arg602Trp) rs148208284 0.00083
NM_001966.4(EHHADH):c.2094A>G (p.Leu698=) rs370130327 0.00083
NM_001966.4(EHHADH):c.1814A>G (p.Lys605Arg) rs140844253 0.00069
NM_001966.4(EHHADH):c.881C>T (p.Ala294Val) rs140514906 0.00066
NM_001966.4(EHHADH):c.1006G>A (p.Ala336Thr) rs146431168 0.00059
NM_001966.4(EHHADH):c.1068C>T (p.His356=) rs142166617 0.00058
NM_001966.4(EHHADH):c.78G>A (p.Thr26=) rs150381945 0.00049
NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val) rs140461295 0.00036
NM_001966.4(EHHADH):c.6C>G (p.Ala2=) rs141515588 0.00029
NM_001966.4(EHHADH):c.1013A>G (p.Lys338Arg) rs141210101 0.00026
NM_001966.4(EHHADH):c.1938T>G (p.Ile646Met) rs140527463 0.00020
NM_001966.4(EHHADH):c.77C>T (p.Thr26Met) rs138013408 0.00019
NM_001966.4(EHHADH):c.1608G>A (p.Gly536=) rs141355337 0.00013
NM_001966.4(EHHADH):c.1563G>A (p.Val521=) rs138858065 0.00011
NM_001966.4(EHHADH):c.621C>G (p.Pro207=) rs139788883 0.00011
NM_001966.4(EHHADH):c.1063G>A (p.Gly355Ser) rs150744159 0.00010
NM_001966.4(EHHADH):c.713A>T (p.Gln238Leu) rs200753408 0.00007
NM_001966.4(EHHADH):c.783A>G (p.Gln261=) rs138063371 0.00006
NM_001966.4(EHHADH):c.144T>C (p.Ile48=) rs370127523 0.00004
NM_001966.4(EHHADH):c.919A>G (p.Thr307Ala) rs185950214 0.00004
NM_001966.4(EHHADH):c.1693C>T (p.Leu565Phe) rs771154497 0.00001
NM_001966.4(EHHADH):c.2078A>G (p.Glu693Gly) rs747498106 0.00001
NM_001966.4(EHHADH):c.1652G>A (p.Arg551Gln)
NM_001966.4(EHHADH):c.411G>A (p.Gln137=) rs148984368
NM_001966.4(EHHADH):c.703C>T (p.Arg235Cys)

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