ClinVar Miner

Variants with conflicting interpretations studied for Intellectual Disability, Dominant

Coded as:
Minimum review status of the submission for Intellectual Disability, Dominant: Collection method of the submission for Intellectual Disability, Dominant:
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
10 4 0 0 6 0 0 6

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
Intellectual Disability, Dominant likely benign benign
uncertain significance 6 2

Condition to condition summary #

Total conditions: 3
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 1 0 0 6 0 0 6
not specified 0 1 0 0 4 0 0 4
MBD5-related condition 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.*1230G>C rs151270374 0.00172
NM_001378120.1(MBD5):c.-831+9dup rs796052705 0.00061
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=) rs770425304 0.00002
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=) rs527977882

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