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
76 62 0 42 32 9 7 78

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 13 1 0 0 7
likely pathogenic 1 0 3 1 1 1
uncertain significance 3 4 0 24 10 2
likely benign 0 0 6 0 19 0
benign 0 0 1 9 0 0

Submitter to submitter summary #

Total submitters: 29
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 67 0 14 14 0 6 34
Invitae 0 79 0 14 15 0 5 34
Color 0 73 0 8 20 0 4 32
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 20 0 19 5 0 3 26
Integrated Genetics/Laboratory Corporation of America 0 20 0 6 11 0 2 19
Ambry Genetics 0 92 0 5 9 0 4 18
Quest Diagnostics Nichols Institute San Juan Capistrano 0 29 0 7 4 0 3 14
Counsyl 0 48 0 3 6 0 4 13
Illumina Clinical Services Laboratory,Illumina 0 14 0 7 4 0 2 13
PreventionGenetics 0 20 0 7 5 0 0 12
True Health Diagnostics 0 10 0 7 3 0 0 10
OMIM 0 0 0 0 0 9 0 9
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 4 0 5 1 0 0 6
Pathway Genomics 0 5 0 2 1 0 1 4
Vantari Genetics 0 4 0 2 1 0 0 3
University of Washington Department of Laboratory Medicine,University of Washington 0 11 0 1 1 0 1 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 8 0 1 1 0 0 2
Mendelics 0 9 0 0 2 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 7 0 0 0 0 2 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 0 0 0 0 0 2 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 7 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 2 0 1 0 0 0 1
PALB2 database 194 21 0 0 0 0 1 1
GeneKor MSA 0 6 0 0 0 0 1 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 78
Download table as spreadsheet
HGVS dbSNP
NM_024675.3(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382
NM_024675.3(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434
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.11C>T (p.Pro4Leu) rs45619737
NM_024675.3(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998
NM_024675.3(PALB2):c.13C>T (p.Pro5Ser) rs377085677
NM_024675.3(PALB2):c.1419A>C (p.Pro473=) rs62625275
NM_024675.3(PALB2):c.1470C>T (p.Pro490=) rs45612837
NM_024675.3(PALB2):c.1544A>G (p.Lys515Arg) rs515726072
NM_024675.3(PALB2):c.1572A>G (p.Ser524=) rs45472400
NM_024675.3(PALB2):c.1592delT (p.Leu531Cysfs) rs180177102
NM_024675.3(PALB2):c.1606C>T (p.Leu536=) rs151162255
NM_024675.3(PALB2):c.1676A>G (p.Gln559Arg) rs152451
NM_024675.3(PALB2):c.1699C>T (p.His567Tyr) rs370422990
NM_024675.3(PALB2):c.172_175delTTGT (p.Gln60Argfs) rs180177143
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.1935G>A (p.Glu645=) rs141707455
NM_024675.3(PALB2):c.1947dupA (p.Glu650Argfs) rs515726075
NM_024675.3(PALB2):c.196C>T (p.Gln66Ter) rs180177083
NM_024675.3(PALB2):c.2014G>C (p.Glu672Gln) rs45532440
NM_024675.3(PALB2):c.2135C>T (p.Ala712Val) rs141458731
NM_024675.3(PALB2):c.2256A>G (p.Gly752=) rs147120218
NM_024675.3(PALB2):c.2323C>T (p.Gln775Ter) rs180177111
NM_024675.3(PALB2):c.232G>A (p.Val78Ile) rs515726085
NM_024675.3(PALB2):c.2365C>T (p.Leu789=) rs145805054
NM_024675.3(PALB2):c.2386G>T (p.Gly796Ter) rs180177112
NM_024675.3(PALB2):c.2391delA (p.Gln797Hisfs) rs1555460360
NM_024675.3(PALB2):c.23C>T (p.Pro8Leu) rs150390726
NM_024675.3(PALB2):c.2442G>A (p.Glu814=) rs140776736
NM_024675.3(PALB2):c.2559C>T (p.Gly853=) rs180177115
NM_024675.3(PALB2):c.2586+10A>G rs373321719
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2674G>A (p.Glu892Lys) rs45476495
NM_024675.3(PALB2):c.2686dupT (p.Ser896Phefs) rs1555459954
NM_024675.3(PALB2):c.2749-18C>T rs182194007
NM_024675.3(PALB2):c.2773G>C (p.Val925Leu) rs180177125
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.2903C>G (p.Ala968Gly) rs369132015
NM_024675.3(PALB2):c.2982dupT (p.Ala995Cysfs) rs180177127
NM_024675.3(PALB2):c.298C>T (p.Leu100Phe) rs61756147
NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu) rs45551636
NM_024675.3(PALB2):c.2996+17T>C rs180177128
NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969
NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132
NM_024675.3(PALB2):c.3116delA (p.Asn1039Ilefs) rs180177133
NM_024675.3(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425
NM_024675.3(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271
NM_024675.3(PALB2):c.3252G>A (p.Ser1084=) rs141570833
NM_024675.3(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527
NM_024675.3(PALB2):c.3300T>G (p.Thr1100=) rs45516100
NM_024675.3(PALB2):c.3307G>A (p.Val1103Met) rs201657283
NM_024675.3(PALB2):c.3350+4A>G rs180177136
NM_024675.3(PALB2):c.3362delG (p.Gly1121Valfs) rs515726117
NM_024675.3(PALB2):c.3428T>A (p.Leu1143His) rs62625284
NM_024675.3(PALB2):c.344G>T (p.Gly115Val) rs145598272
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.400G>A (p.Asp134Asn) rs139555085
NM_024675.3(PALB2):c.48+1G>C rs515726118
NM_024675.3(PALB2):c.503C>A (p.Ser168Ter) rs515726122
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) rs138789658
NM_024675.3(PALB2):c.629C>T (p.Pro210Leu) rs57605939
NM_024675.3(PALB2):c.656A>G (p.Asp219Gly) rs45594034
NM_024675.3(PALB2):c.721A>G (p.Asn241Asp) rs113217267
NM_024675.3(PALB2):c.758dupT (p.Ser254Ilefs) rs515726126
NM_024675.3(PALB2):c.765T>C (p.Asp255=) rs45465299
NM_024675.3(PALB2):c.807T>C (p.Gly269=) rs180177093
NM_024675.3(PALB2):c.899C>T (p.Thr300Ile) rs528541334
NM_024675.3(PALB2):c.909C>T (p.Leu303=) rs145788619
NM_024675.3(PALB2):c.925A>G (p.Ile309Val) rs3809683
NM_024675.3(PALB2):c.94C>G (p.Leu32Val) rs151316635
NM_024675.3(PALB2):c.999C>T (p.Thr333=) rs180177096
PALB2:c.2515-1G>T rs587776417

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.