ClinVar Miner

Variants from King Laboratory,University of Washington with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from King Laboratory,University of Washington: Collection method of the submission from King Laboratory,University of Washington:
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
66 12 0 12 24 0 13 45

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
King Laboratory,University of Washington pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 6 4 4
uncertain significance 0 1 0 0 0
benign 1 1 24 8 0

Submitter to submitter summary #

Total submitters: 27
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
GeneDx 0 4 0 2 18 0 2 22
Integrated Genetics/Laboratory Corporation of America 0 4 0 3 10 0 0 13
Quest Diagnostics Nichols Institute San Juan Capistrano 0 2 0 2 9 0 0 11
Sharing Clinical Reports Project (SCRP) 0 9 0 3 0 0 3 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 3 0 1 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 2 2 0 0 4
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 6 0 0 0 0 4 4
Counsyl 0 8 0 1 0 0 2 3
Mendelics 0 2 0 0 0 0 3 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 1 0 1 3
Athena Diagnostics Inc 0 0 0 0 2 0 0 2
PreventionGenetics, PreventionGenetics 0 1 0 1 1 0 0 2
Breast Cancer Information Core (BIC) (BRCA1) 0 7 0 0 0 0 2 2
Breast Cancer Information Core (BIC) (BRCA2) 0 5 0 0 0 0 2 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 0 0 1
Invitae 0 1 0 0 0 0 1 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 0 0 0 1 0 0 1
GeneKor MSA 0 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 0 1
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 1 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 0 0 0 1 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 0 0 1 0 0 0 1
ClinGen PTEN Variant Curation Expert Panel 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.1009C>T (p.Arg337Cys) rs138398778
NM_000051.3(ATM):c.3963G>A (p.Met1321Ile) rs35184530
NM_000051.3(ATM):c.5009C>T (p.Ala1670Val) rs375131360
NM_000051.3(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.3(ATM):c.8011-6T>G rs762092284
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000059.3(BRCA2):c.28A>G (p.Thr10Ala) rs786203080
NM_000059.3(BRCA2):c.7007+5G>A rs81002816
NM_000059.3(BRCA2):c.7466A>G (p.Asp2489Gly) rs80358970
NM_000059.3(BRCA2):c.750G>A (p.Val250=) rs143214959
NM_000059.3(BRCA2):c.7559G>C (p.Arg2520Pro) rs80358982
NM_000059.3(BRCA2):c.7992T>A (p.Ile2664=) rs80359800
NM_000059.3(BRCA2):c.8331+3A>C rs876659382
NM_000059.3(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075
NM_000059.3(BRCA2):c.8359C>T (p.Arg2787Cys) rs41293517
NM_000059.3(BRCA2):c.9076C>G (p.Gln3026Glu) rs80359159
NM_000059.3(BRCA2):c.9344A>G (p.Lys3115Arg) rs276174923
NM_000059.4(BRCA2):c.517-2A>G rs81002858
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_002878.3(RAD51D):c.904-3C>T rs45478491
NM_004360.5(CDH1):c.2440-6C>G rs139757930
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007294.3(BRCA1):c.135-20T>G rs80358025
NM_007294.3(BRCA1):c.301+55G>A rs868735744
NM_007294.3(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5454C>T (p.Asp1818=) rs1555574705
NM_007294.4(BRCA1):c.594-2A>C rs80358033
NM_007294.4(BRCA1):c.81-6T>C rs80358179
NM_007294.4(BRCA1):c.81T>C (p.Cys27=) rs587780805
NM_024675.3(PALB2):c.1699C>T (p.His567Tyr) rs370422990
NM_024675.3(PALB2):c.2204C>T (p.Pro735Leu) rs199743500
NM_024675.3(PALB2):c.2289G>C (p.Leu763Phe) rs373478248
NM_024675.3(PALB2):c.2752C>T (p.Pro918Ser) rs515726094
NM_032043.2(BRIP1):c.2372A>T (p.Asp791Val) rs876658934
NM_032043.2(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622
NM_032043.2(BRIP1):c.297C>T (p.Asp99=) rs201617644

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