ClinVar Miner

Variants with conflicting interpretations studied for Thrombocytopenia

Coded as:
Minimum review status of the submission for Thrombocytopenia: Y axis collection method of the submission for Thrombocytopenia:
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
176 2 0 27 0 0 0 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.

All conditions
Thrombocytopenia benign
likely benign 27

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
not specified 0 0 0 27 0 0 0 27

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_014915.2(ANKRD26):c.-140C>G rs41299222
NM_014915.2(ANKRD26):c.-59G>A rs3737056
NM_014915.2(ANKRD26):c.1207+15A>G rs115864032
NM_014915.2(ANKRD26):c.1273A>G (p.Ile425Val) rs12359281
NM_014915.2(ANKRD26):c.1564+6T>C rs149655759
NM_014915.2(ANKRD26):c.1596_1598delAGA (p.Glu533del) rs138423863
NM_014915.2(ANKRD26):c.2376-4G>A rs75445709
NM_014915.2(ANKRD26):c.2978A>C (p.Glu993Ala) rs61745662
NM_014915.2(ANKRD26):c.3384G>A (p.Lys1128=) rs41299210
NM_014915.2(ANKRD26):c.3658G>C (p.Val1220Leu) rs12572862
NM_014915.2(ANKRD26):c.3913G>A (p.Val1305Ile) rs10829163
NM_014915.2(ANKRD26):c.3972+3A>G rs72807627
NM_014915.2(ANKRD26):c.4145T>A (p.Phe1382Tyr) rs78251061
NM_014915.2(ANKRD26):c.4542T>A (p.Phe1514Leu) rs2274741
NM_014915.2(ANKRD26):c.59A>G (p.Gln20Arg) rs7897309
NM_014915.2(ANKRD26):c.624A>G (p.Val208=) rs2297145
NM_018947.5(CYCS):c.-6T>G rs11267038
NM_032844.4(MASTL):c.*29T>C rs10764686
NM_032844.4(MASTL):c.-12T>G rs7907988
NM_032844.4(MASTL):c.-27T>C rs7907981
NM_032844.4(MASTL):c.1010C>A (p.Thr337Lys) rs36121140
NM_032844.4(MASTL):c.1782C>T (p.Ile594=) rs1981296
NM_032844.4(MASTL):c.1858C>G (p.Pro620Ala) rs3802526
NM_032844.4(MASTL):c.2136G>A (p.Gln712=) rs41282228
NM_032844.4(MASTL):c.2616T>C (p.Thr872=) rs10741130
NM_032844.4(MASTL):c.477G>A (p.Pro159=) rs56204835
NM_032844.4(MASTL):c.660+12A>T rs7068375

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