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 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
166 108 8 10 0 5 9 23

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 risk factor other
likely pathogenic 10 6 9 4 1
uncertain significance 1 9 2 0 1

Submitter to submitter summary #

Total submitters: 12
Download table as spreadsheet
Submitter 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
OMIM 0 18 0 8 0 4 1 12
Richard Lifton Laboratory, Yale University School of Medicine 194 94 0 0 0 0 9 9
Database of Curated Mutations (DoCM) 0 0 4 1 0 0 1 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 0 1
Ambry Genetics 0 0 0 1 0 0 0 1
Counsyl 0 0 1 0 0 0 0 1
Invitae 0 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 1 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 0 1 0 0 0 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 0 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000299.3(PKP1):c.1199C>T (p.Pro400Leu) rs483352688
NM_000321.2(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000546.5(TP53):c.587G>T (p.Arg196Leu) rs483352697
NM_000546.5(TP53):c.736A>G (p.Met246Val) rs483352695
NM_000720.3(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_000890.3(KCNJ5):c.451G>A (p.Gly151Arg) rs386352319
NM_001076683.1(UBTF):c.2053G>T (p.Asp685Tyr) rs483352703
NM_001081.3(CUBN):c.4268C>T (p.Thr1423Met) rs483352704
NM_001128840.2(CACNA1D):c.2250C>G (p.Ile750Met) rs41276445
NM_001830.3(CLCN4):c.2183C>T (p.Thr728Met) rs483352716
NM_001904.3(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_001904.3(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.3(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.3(CTNNB1):c.95A>G (p.Asp32Gly) rs121913396
NM_002499.3(NEO1):c.2935C>G (p.Pro979Ala) rs483352721
NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg) rs386352352
NM_003647.2(DGKE):c.32C>A (p.Ser11Ter) rs148605410
NM_003647.2(DGKE):c.486dupA (p.Val163Serfs) rs312262699
NM_003647.2(DGKE):c.818G>C (p.Arg273Pro) rs312262695
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661
NM_005709.3(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_032632.4(PAPOLA):c.1464A>G (p.Val488=) rs483352759
NM_032866.4(CGNL1):c.2322T>C (p.His774=) rs483352760

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