ClinVar Miner

Variants with conflicting interpretations between Richard Lifton Laboratory, Yale University School of Medicine and Richard Lifton Laboratory, Yale University School of Medicine

Minimum review status of the submission from Richard Lifton Laboratory, Yale University School of Medicine: Collection method of the submission from Richard Lifton Laboratory, Yale University School of Medicine:
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
194 94 0 0 0 0 9 9

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.

likely pathogenic uncertain significance
likely pathogenic 0 9
uncertain significance 9 0

All variants with conflicting interpretations #

Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001830.4(CLCN4):c.2183C>T (p.Thr728Met) rs483352716 0.00001
NM_032866.5(CGNL1):c.2322T>C (p.His774=) rs483352760 0.00001
NM_000321.3(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000546.6(TP53):c.587G>T (p.Arg196Leu) rs483352697
NM_001005337.3(PKP1):c.1199C>T (p.Pro400Leu) rs483352688
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_002499.4(NEO1):c.2935C>G (p.Pro979Ala) rs483352721
NM_014233.4(UBTF):c.2164G>T (p.Asp722Tyr) rs483352703
NM_032632.5(PAPOLA):c.1464A>G (p.Val488=) rs483352759

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