ClinVar Miner

Variants with conflicting interpretations studied for Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Coded as:
Minimum review status of the submission for Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: Collection method of the submission for Hyperornithinemia-hyperammonemia-homocitrullinuria 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 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
352 24 0 15 15 0 1 31

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
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 14 1 0 0
likely pathogenic 14 0 0 0 0
uncertain significance 1 0 0 14 1
likely benign 0 0 14 0 1
benign 0 0 1 1 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 352 24 0 15 15 0 1 31

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014252.4(SLC25A15):c.623-17A>G rs191780003 0.00905
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) rs34615430 0.00292
NM_014252.4(SLC25A15):c.564C>T (p.Phe188=) rs141028076 0.00077
NM_014252.4(SLC25A15):c.345C>T (p.Phe115=) rs35434090 0.00029
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly) rs142236568 0.00012
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=) rs572717478 0.00011
NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln) rs369201060 0.00010
NM_014252.4(SLC25A15):c.861C>T (p.Tyr287=) rs148422923 0.00010
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu) rs187685447 0.00009
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter) rs202247807 0.00006
NM_014252.4(SLC25A15):c.381G>A (p.Thr127=) rs543205273 0.00005
NM_014252.4(SLC25A15):c.388G>A (p.Val130Met) rs553432772 0.00005
NM_014252.4(SLC25A15):c.417G>A (p.Glu139=) rs752316567 0.00005
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=) rs536354947 0.00004
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile) rs121908535 0.00004
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser) rs199894905 0.00003
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys) rs104894424 0.00002
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=) rs765380976 0.00001
NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln) rs104894431 0.00001
NM_014252.4(SLC25A15):c.212T>A (p.Leu71Gln) rs121908534
NM_014252.4(SLC25A15):c.236C>G (p.Ser79Ter) rs2138045987
NM_014252.4(SLC25A15):c.326del (p.Asn109fs)
NM_014252.4(SLC25A15):c.408del (p.Met137fs) rs780201405
NM_014252.4(SLC25A15):c.446del (p.Ser149fs) rs1566123619
NM_014252.4(SLC25A15):c.45G>A (p.Ala15=) rs200958757
NM_014252.4(SLC25A15):c.498del (p.Leu167fs) rs2138056689
NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter) rs1480063127
NM_014252.4(SLC25A15):c.554_557del (p.Phe185fs) rs1882233400
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu) rs141028076
NM_014252.4(SLC25A15):c.565G>A (p.Gly189Ser) rs151239794
NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg) rs202247805

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