ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and SIB Swiss Institute of Bioinformatics

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
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
0 12 0 15 1 0 0 16

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.

likely pathogenic uncertain significance likely benign benign
pathogenic 7 0 0 0
likely benign 0 1 0 7
benign 0 0 1 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000335.4(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006920.6(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_023110.2(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser) rs138031468

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