ClinVar Miner

Variants from PALB2 database with conflicting interpretations

Location: United Kingdom — Primary collection method: literature only
Minimum review status of the submission from PALB2 database: Collection method of the submission from PALB2 database:
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
73 26 0 20 6 3 2 26

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
PALB2 database pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 2 0 0 0 2
likely pathogenic 1 0 1 0 0 1
uncertain significance 1 1 0 3 3 0
likely benign 0 0 3 0 10 0
benign 0 0 0 7 0 0

Submitter to submitter summary #

Total submitters: 23
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
GeneDx 0 15 0 9 4 0 2 15
Invitae 0 19 0 9 3 0 1 13
Quest Diagnostics Nichols Institute San Juan Capistrano 0 7 0 8 2 0 0 10
Illumina Clinical Services Laboratory,Illumina 0 6 0 6 3 0 0 9
Color 0 20 0 5 3 0 1 9
Ambry Genetics 0 28 0 4 3 0 1 8
True Health Diagnostics 0 1 0 6 2 0 0 8
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 3 0 7 0 0 0 7
PreventionGenetics,PreventionGenetics 0 10 0 4 2 0 0 6
Integrated Genetics/Laboratory Corporation of America 0 5 0 4 2 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 7 0 2 2 0 0 4
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 2 0 3 1 0 0 4
OMIM 0 0 0 0 0 3 0 3
Counsyl 0 6 0 0 2 0 1 3
Mendelics 0 3 0 2 1 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 2 1 0 0 3
Pathway Genomics 0 4 0 1 1 0 0 2
Vantari Genetics 0 4 0 1 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 5 0 0 1 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
SNPedia 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_024675.3(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382
NM_024675.3(PALB2):c.1010T>C (p.Leu337Ser) rs45494092
NM_024675.3(PALB2):c.1027C>T (p.Gln343Ter) rs180177097
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.3(PALB2):c.1572A>G (p.Ser524=) rs45472400
NM_024675.3(PALB2):c.1606C>T (p.Leu536=) rs151162255
NM_024675.3(PALB2):c.1810C>T (p.Leu604=) rs144015319
NM_024675.3(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.3(PALB2):c.2014G>C (p.Glu672Gln) rs45532440
NM_024675.3(PALB2):c.212-58A>C rs80291632
NM_024675.3(PALB2):c.2256A>G (p.Gly752=) rs147120218
NM_024675.3(PALB2):c.2365C>T (p.Leu789=) rs145805054
NM_024675.3(PALB2):c.2442G>A (p.Glu814=) rs140776736
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2686dup (p.Ser896fs) rs1555459954
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_024675.3(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro) rs149522412
NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu) rs45551636
NM_024675.3(PALB2):c.3300T>G (p.Thr1100=) rs45516100
NM_024675.3(PALB2):c.3350+4A>G rs180177136
NM_024675.3(PALB2):c.3495G>A (p.Ser1165=) rs45439097
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_024675.3(PALB2):c.48+1G>C rs515726118
NM_024675.3(PALB2):c.721A>G (p.Asn241Asp) rs113217267
PALB2:c.2515-1G>T rs587776417

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