ClinVar Miner

Variants in gene MCPH1 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
115 25 3 25 15 0 2 40

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 3 3 0 0 0
likely pathogenic 3 0 2 0 0
uncertain significance 0 2 0 14 5
likely benign 0 0 14 0 22
benign 0 0 5 22 0

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
NM_001172574.1(MCPH1):c.1728C>T (p.Gly576=) rs41313954
NM_001172574.1(MCPH1):c.23-15A>G rs146351889
NM_024596.4(MCPH1):c.115-14C>T rs200346652
NM_024596.4(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569
NM_024596.4(MCPH1):c.1236T>C (p.Tyr412=) rs142858644
NM_024596.4(MCPH1):c.128T>C (p.Phe43Ser) rs587783733
NM_024596.4(MCPH1):c.1495G>A (p.Val499Met) rs146586991
NM_024596.4(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.4(MCPH1):c.1625T>G (p.Leu542Ter)
NM_024596.4(MCPH1):c.1719C>T (p.Ser573=) rs35551093
NM_024596.4(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894
NM_024596.4(MCPH1):c.1782G>A (p.Thr594=) rs2584
NM_024596.4(MCPH1):c.182A>G (p.Asp61Gly) rs61749465
NM_024596.4(MCPH1):c.1845A>C (p.Thr615=) rs186547090
NM_024596.4(MCPH1):c.2045C>A (p.Thr682Asn) rs12674488
NM_024596.4(MCPH1):c.2215-15C>G rs11137040
NM_024596.4(MCPH1):c.2215-19A>G rs2936531
NM_024596.4(MCPH1):c.2274C>T (p.Asp758=) rs186136373
NM_024596.4(MCPH1):c.228G>T (p.Val76=) rs2305022
NM_024596.4(MCPH1):c.2295G>A (p.Ser765=) rs200401940
NM_024596.4(MCPH1):c.2400C>T (p.Tyr800=) rs7017210
NM_024596.4(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031
NM_024596.4(MCPH1):c.2453-14C>T rs17077744
NM_024596.4(MCPH1):c.2453-1G>C rs587783739
NM_024596.4(MCPH1):c.2482C>T (p.Pro828Ser) rs1057091
NM_024596.4(MCPH1):c.297C>T (p.His99=) rs727504012
NM_024596.4(MCPH1):c.305G>C (p.Ser102Thr) rs2290145
NM_024596.4(MCPH1):c.427dupA (p.Thr143Asnfs) rs199422125
NM_024596.4(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024596.4(MCPH1):c.477A>T (p.Ser159=) rs41313948
NM_024596.4(MCPH1):c.634G>A (p.Ala212Thr) rs2922828
NM_024596.4(MCPH1):c.647T>C (p.Ile216Thr) rs75741316
NM_024596.4(MCPH1):c.74C>G (p.Ser25Ter) rs121434305
NM_024596.4(MCPH1):c.790A>G (p.Ile264Val) rs34121009
NM_024596.4(MCPH1):c.863C>A (p.Pro288His) rs35590577
NM_024596.4(MCPH1):c.867G>A (p.Gln289=) rs201231900
NM_024596.4(MCPH1):c.911G>T (p.Arg304Ile) rs2083914
NM_024596.4(MCPH1):c.940G>C (p.Asp314His) rs930557
NM_024596.4(MCPH1):c.989A>G (p.Tyr330Cys) rs115088000

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.