ClinVar Miner

Variants in gene SRCAP with conflicting interpretations

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 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
226 11 2 13 9 0 3 27

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 2 1 0 0 0
likely pathogenic 1 0 3 0 0
uncertain significance 0 3 0 8 1
likely benign 0 0 8 0 12
benign 0 0 1 12 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_006662.3(SRCAP):c.1174C>T (p.Gln392Ter) rs1555463754
NM_006662.3(SRCAP):c.148del (p.His50fs)
NM_006662.3(SRCAP):c.1493-8C>T rs184337406
NM_006662.3(SRCAP):c.1545A>G (p.Glu515=) rs770648545
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184
NM_006662.3(SRCAP):c.2573G>A (p.Arg858His) rs35892240
NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro) rs202000509
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser) rs143519723
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733
NM_006662.3(SRCAP):c.4189A>G (p.Ile1397Val) rs144657822
NM_006662.3(SRCAP):c.4293C>G (p.Val1431=) rs79597785
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715
NM_006662.3(SRCAP):c.5019G>A (p.Pro1673=) rs202139170
NM_006662.3(SRCAP):c.5461delinsAGA (p.Ser1821fs) rs1555464955
NM_006662.3(SRCAP):c.5531C>G (p.Ser1844Cys) rs78037619
NM_006662.3(SRCAP):c.5610C>T (p.Pro1870=) rs141985098
NM_006662.3(SRCAP):c.5838C>A (p.Pro1946=) rs1276291921
NM_006662.3(SRCAP):c.6495-8C>A rs75991082
NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=) rs138152469
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006662.3(SRCAP):c.7853A>G (p.Asn2618Ser) rs144476508
NM_006662.3(SRCAP):c.833del (p.Pro278fs) rs886041787
NM_006662.3(SRCAP):c.8482C>T (p.Arg2828Cys) rs144623507
NM_006662.3(SRCAP):c.8703A>G (p.Leu2901=) rs61746613
NM_006662.3(SRCAP):c.8865C>G (p.Ser2955=) rs149043190

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.