ClinVar Miner

Variants with conflicting interpretations studied for Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Coded as:
Minimum review status of the submission for Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Y axis collection method of the submission for Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy:
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
68 27 0 20 3 0 4 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
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 2 0 1
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 2 0
likely benign 0 0 1 0 17
benign 1 0 0 3 0

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 17 0 17 2 0 1 20
not provided 0 10 0 3 1 0 3 7
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 112 5 0 3 0 0 1 4
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Lehman syndrome; Infantile myofibromatosis 2 0 0 0 1 0 0 1 2
Recurrent subcortical infarcts 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000435.3(NOTCH3):c.1426A>T (p.Ser476Cys) rs886054260
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045
NM_000435.3(NOTCH3):c.1620G>T (p.Thr540=) rs75617410
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.3(NOTCH3):c.1725G>A (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=) rs35793356
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=) rs140040122
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451
NM_000435.3(NOTCH3):c.5370C>T (p.Phe1790=) rs35887416
NM_000435.3(NOTCH3):c.5400G>T (p.Gly1800=) rs34480308
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213
NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile) rs142007575
NM_000435.3(NOTCH3):c.6813T>C (p.Pro2271=) rs61731974
NM_000435.3(NOTCH3):c.825G>A (p.Val275=) rs138837495

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.