ClinVar Miner

Variants with conflicting interpretations studied for Histiocytosis-lymphadenopathy plus syndrome

Coded as:
Minimum review status of the submission for Histiocytosis-lymphadenopathy plus syndrome: Y axis collection method of the submission for Histiocytosis-lymphadenopathy plus syndrome:
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
74 11 0 17 3 0 2 20

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
Histiocytosis-lymphadenopathy plus syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 2 0 0
uncertain significance 1 0 0 2 3
likely benign 0 0 1 0 7
benign 0 0 3 16 0

Condition to condition summary #

Total conditions: 3
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 3 0 11 1 0 0 11
Histiocytosis-lymphadenopathy plus syndrome 89 6 0 7 3 0 1 10
not provided 0 3 0 1 0 0 2 3

All variants with conflicting interpretations #

Total variants: 20
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HGVS dbSNP
NM_018344.5(SLC29A3):c.-63C>T rs72542481
NM_018344.6(SLC29A3):c.1001A>G (p.Asn334Ser) rs144665176
NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=) rs1084004
NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp) rs387907067
NM_018344.6(SLC29A3):c.1146C>T (p.Phe382=) rs148092033
NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter) rs267607056
NM_018344.6(SLC29A3):c.300+3A>G rs7083031
NM_018344.6(SLC29A3):c.304T>C (p.Tyr102His) rs77339410
NM_018344.6(SLC29A3):c.383+6C>T rs77626641
NM_018344.6(SLC29A3):c.383+8A>G rs2243540
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668
NM_018344.6(SLC29A3):c.488G>T (p.Gly163Val) rs143557881
NM_018344.6(SLC29A3):c.498G>C (p.Ala166=) rs150879861
NM_018344.6(SLC29A3):c.52A>G (p.Arg18Gly) rs2277257
NM_018344.6(SLC29A3):c.597G>A (p.Gln199=) rs16928737
NM_018344.6(SLC29A3):c.714T>C (p.Thr238=) rs2252997
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)
NM_018344.6(SLC29A3):c.715G>A (p.Val239Ile) rs2252996
NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter) rs746408350
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val) rs2487068

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