ClinVar Miner

Variants with conflicting interpretations studied for Lissencephaly, Recessive

Coded as:
Minimum review status of the submission for Lissencephaly, Recessive: Y axis collection method of the submission for Lissencephaly, Recessive:
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
67 12 0 7 19 0 0 26

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
Lissencephaly, Recessive uncertain significance likely benign benign
uncertain significance 0 14 7
likely benign 0 0 7
benign 1 0 0

Condition to condition summary #

Total conditions: 4
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 specified 0 6 0 7 15 0 0 22
Cardiovascular phenotype 0 7 0 3 5 0 0 8
not provided 0 7 0 0 8 0 0 8
Familial aortopathy 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_001143979.2(NDE1):c.-165-12_-165-9del rs757466932
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831
NM_002474.3(MYH11):c.4095C>T (p.His1365=) rs374454281
NM_002474.3(MYH11):c.4116+12G>A rs193005461
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=) rs8046180
NM_002474.3(MYH11):c.4579-13G>A rs181115969
NM_002474.3(MYH11):c.4899C>T (p.Ala1633=) rs760584464
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) rs771742318
NM_002474.3(MYH11):c.5172-13G>A rs373378619
NM_002474.3(MYH11):c.5172-14C>T rs34839877
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=) rs757501817
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682
NM_002474.3(MYH11):c.5296-4C>T rs183176702
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) rs774511118
NM_002474.3(MYH11):c.5786+11C>T rs374454501
NM_005045.4(RELN):c.-24_-22GGC[10] (p.Met1_Glu2insGlyGly) rs55656324
NM_005045.4(RELN):c.-24_-22GGC[12] (p.Met1_Glu2insGlyGlyGlyGly) rs55656324
NM_005045.4(RELN):c.-24_-22GGC[14] (p.Met1_Glu2insGlyGlyGlyGlyGlyGly) rs55656324
NM_005045.4(RELN):c.-24_-22GGC[9] (p.Met1_Glu2insGly) rs55656324
NM_005045.4(RELN):c.1290-11dup rs146986040
NM_005045.4(RELN):c.5211-25dup rs34125550

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.