ClinVar Miner

Variants with conflicting interpretations between HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology and Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Minimum review status of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology: Collection method of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology:
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
16 70 0 12 0 0 4 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.

pathogenic likely pathogenic uncertain significance likely benign
likely pathogenic 12 0 1 1
uncertain significance 1 1 0 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu) rs1554122947
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674

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