ClinVar Miner

Variants with conflicting interpretations studied for Syndromic intellectual disability

Coded as:
Minimum review status of the submission for Syndromic intellectual disability: Y axis collection method of the submission for Syndromic intellectual disability:
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 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
48 72 0 17 8 0 0 25

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
Syndromic intellectual disability likely pathogenic uncertain significance likely benign benign
pathogenic 1 0 0 0
uncertain significance 0 0 7 1
likely benign 0 1 0 16

Condition to condition summary #

Total conditions: 5
Download table as spreadsheet
Condition 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
not specified 0 9 0 10 7 0 0 17
Koolen-de Vries syndrome 0 9 0 10 2 0 0 12
not provided 0 14 0 4 0 0 0 4
Global developmental delay; Abnormal facial shape 0 0 0 1 0 0 0 1
MAPT-Related Spectrum Disorders 0 58 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_001193466.2(KANSL1):c.-35C>T rs200079769
NM_001193466.2(KANSL1):c.1124C>T (p.Ser375Leu) rs142696045
NM_001193466.2(KANSL1):c.1423G>A (p.Ala475Thr) rs547462953
NM_001193466.2(KANSL1):c.1831G>A (p.Val611Ile) rs202150313
NM_001193466.2(KANSL1):c.1857G>T (p.Arg619=) rs191986791
NM_001193466.2(KANSL1):c.2109A>G (p.Leu703=) rs34101027
NM_001193466.2(KANSL1):c.2256C>T (p.Asp752=) rs760224197
NM_001193466.2(KANSL1):c.2294C>T (p.Ala765Val) rs151099014
NM_001193466.2(KANSL1):c.2441C>G (p.Thr814Ser) rs757031050
NM_001193466.2(KANSL1):c.2481C>T (p.Ser827=) rs143653891
NM_001193466.2(KANSL1):c.2628C>T (p.Arg876=) rs149756887
NM_001193466.2(KANSL1):c.2683C>G (p.Leu895Val) rs555819683
NM_001193466.2(KANSL1):c.2698G>A (p.Gly900Arg) rs74867664
NM_001193466.2(KANSL1):c.296A>G (p.Gln99Arg) rs754727332
NM_001193466.2(KANSL1):c.30C>T (p.Asp10=) rs200649587
NM_001193466.2(KANSL1):c.571G>T (p.Gly191Cys) rs149566146
NM_001193466.2(KANSL1):c.607G>C (p.Gly203Arg) rs138175526
NM_001193466.2(KANSL1):c.635A>G (p.His212Arg) rs141110759
NM_001193466.2(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_001193466.2(KANSL1):c.701T>C (p.Val234Ala) rs199948200
NM_001193466.2(KANSL1):c.727C>A (p.Gln243Lys) rs142096969
NM_001193466.2(KANSL1):c.773T>C (p.Leu258Ser) rs145714368
NM_001193466.2(KANSL1):c.800A>G (p.Lys267Arg) rs140181991
NM_016835.4(MAPT):c.*1047C>T rs113815715
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.