ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and CSER _CC_NCGL, University of Washington

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
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 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
127 10 0 4 7 0 2 13

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.

uncertain significance likely benign
pathogenic 1 1
uncertain significance 0 3
likely benign 2 0
benign 2 4

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000335.4(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211

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