ClinVar Miner

Variants in gene NOTCH3 with conflicting interpretations

See also:
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 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
236 35 0 26 4 0 5 34

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
pathogenic 0 9 3 0 1
likely pathogenic 9 0 1 0 0
uncertain significance 3 1 0 4 1
likely benign 0 0 4 0 17
benign 1 0 1 17 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_000435.2(NOTCH3):c.1140T>C (p.Pro380=) rs61749020
NM_000435.2(NOTCH3):c.120C>G (p.Ala40=) rs146904189
NM_000435.2(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000435.2(NOTCH3):c.1426A>T (p.Ser476Cys) rs886054260
NM_000435.2(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799
NM_000435.2(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045
NM_000435.2(NOTCH3):c.1620G>T (p.Thr540=) rs75617410
NM_000435.2(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.2(NOTCH3):c.1725G>A (p.Thr575=) rs79926127
NM_000435.2(NOTCH3):c.1782C>T (p.Gly594=) rs35793356
NM_000435.2(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.2(NOTCH3):c.2039G>A (p.Arg680His) rs10406745
NM_000435.2(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942
NM_000435.2(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101
NM_000435.2(NOTCH3):c.2202C>T (p.Ala734=) rs140040122
NM_000435.2(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976
NM_000435.2(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466
NM_000435.2(NOTCH3):c.3182G>A (p.Cys1061Tyr) rs1064794216
NM_000435.2(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.2(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217
NM_000435.2(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000435.2(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.2(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000435.2(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165
NM_000435.2(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403
NM_000435.2(NOTCH3):c.509A>G (p.His170Arg) rs147373451
NM_000435.2(NOTCH3):c.5370C>T (p.Phe1790=) rs35887416
NM_000435.2(NOTCH3):c.5400G>T (p.Gly1800=) rs34480308
NM_000435.2(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213
NM_000435.2(NOTCH3):c.6031G>A (p.Val2011Ile) rs142007575
NM_000435.2(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000435.2(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.2(NOTCH3):c.6813T>C (p.Pro2271=) rs61731974
NM_000435.2(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.