ClinVar Miner

Variants in gene EFHC1 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 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
317 15 0 16 16 2 2 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.

pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 2 0 0 1
uncertain significance 2 0 11 9 1
likely benign 0 11 0 16 0
benign 0 9 16 0 1
risk factor 1 1 0 1 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
NM_018100.4(EFHC1):c.*1025_*1026AT[12] rs59794069
NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys) rs505760
NM_018100.4(EFHC1):c.1155C>T (p.Asn385=) rs115913738
NM_018100.4(EFHC1):c.1224C>T (p.Asp408=) rs116134831
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=) rs773385237
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=) rs377227885
NM_018100.4(EFHC1):c.15C>T (p.Pro5=) rs1339961633
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) rs145194882
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334
NM_018100.4(EFHC1):c.25T>C (p.Leu9=) rs149315015
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) rs3804506
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505
NM_018100.4(EFHC1):c.573+10A>G rs9349626
NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn) rs137852777
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379
NM_018100.4(EFHC1):c.64-5T>C rs201860746
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys) rs139197513
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721
NM_018100.4(EFHC1):c.881G>A (p.Arg294His) rs1570624
NM_018100.4(EFHC1):c.887G>A (p.Arg296His) rs115205076
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638

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