ClinVar Miner

Variants in gene CHD8 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
221 16 0 11 11 2 1 22

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 drug response protective risk factor other
pathogenic 0 1 0 0 0 0 0 1 0
likely pathogenic 2 0 1 1 1 1 1 0 1
uncertain significance 0 0 0 9 3 0 0 0 0
likely benign 0 0 9 0 9 0 0 0 0
benign 0 0 3 9 0 0 0 0 0
risk factor 1 0 0 0 0 0 0 0 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) rs553367989
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=) rs190978463
NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter) rs1057524677
NM_001170629.2(CHD8):c.1717-4A>G rs191933523
NM_001170629.2(CHD8):c.1791AGA[3] (p.Glu601del) rs757502536
NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys) rs78640816
NM_001170629.2(CHD8):c.27C>T (p.Phe9=) rs75191413
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264
NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter) rs397514552
NM_001170629.2(CHD8):c.456A>G (p.Pro152=) rs61752839
NM_001170629.2(CHD8):c.4921+5G>A rs377595194
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=) rs766317271
NM_001170629.2(CHD8):c.5390+10A>T rs181227407
NM_001170629.2(CHD8):c.6054T>C (p.Ser2018=) rs61752836
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) rs145300090
NM_001170629.2(CHD8):c.6207G>A (p.Ser2069=) rs370827611
NM_001170629.2(CHD8):c.6312G>A (p.Glu2104=) rs118140634
NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys) rs200465274
NM_001170629.2(CHD8):c.7253G>A (p.Arg2418Gln) rs573063062
NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=) rs367905297
NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe) rs192989929
Single allele

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