ClinVar Miner

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

Location: United States — Primary collection method: not provided
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
190 94 3 1 0 0 9 13

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 submitters
Richard Lifton Laboratory, Yale University School of Medicine pathogenic likely pathogenic uncertain significance
likely pathogenic 1 1 9
uncertain significance 0 9 2

Submitter to submitter summary #

Total submitters: 5
Download table as spreadsheet
Submitter 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
Richard Lifton Laboratory, Yale University School of Medicine 194 94 0 0 0 0 9 9
OMIM 0 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 0 1
Invitae 0 0 1 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000321.2(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000546.5(TP53):c.587G>T (p.Arg196Leu) rs483352697
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg) rs386352319
NM_001005337.3(PKP1):c.1199C>T (p.Pro400Leu) rs483352688
NM_001081.3(CUBN):c.4268C>T (p.Thr1423Met) rs483352704
NM_001252335.2(CGNL1):c.2322T>C (p.His774=) rs483352760
NM_001830.4(CLCN4):c.2183C>T (p.Thr728Met) rs483352716
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_002499.4(NEO1):c.2935C>G (p.Pro979Ala) rs483352721
NM_014233.4(UBTF):c.2164G>T (p.Asp722Tyr) rs483352703
NM_032632.4(PAPOLA):c.1464A>G (p.Val488=) rs483352759
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849

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