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
166 41 1 59 25 7 26 102

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 affects risk factor other
pathogenic 1 25 9 4 4 4 1 0
likely pathogenic 16 0 10 1 0 1 0 1
uncertain significance 1 1 0 0 0 0 0 0
benign 1 1 25 18 0 0 0 0

Submitter to submitter summary #

Total submitters: 65
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 7 16 0 2 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 9 0 7 11 0 0 18
Quest Diagnostics Nichols Institute San Juan Capistrano 0 2 0 4 10 0 1 15
Hereditary Research Laboratory, Bethlehem University 0 8 0 13 0 0 0 13
Baylor Genetics 0 18 0 8 0 0 3 11
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 0 5 4 0 0 9
Myriad Genetics, Inc. 0 4 0 9 0 0 0 9
PreventionGenetics, part of Exact Sciences 0 1 0 5 3 0 0 8
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 1 0 2 5 0 0 7
Sharing Clinical Reports Project (SCRP) 0 9 0 3 0 0 3 6
CeGaT Center for Human Genetics Tuebingen 0 1 0 3 2 0 1 6
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 0 0 0 0 6 0 6
Invitae 0 3 0 2 0 0 3 5
Genetic Services Laboratory, University of Chicago 0 1 0 0 3 0 1 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 0 1 3 0 0 4
Mendelics 0 3 0 1 0 0 3 4
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 5 0 0 0 0 4 4
Illumina Laboratory Services, Illumina 0 2 0 0 0 0 4 4
Athena Diagnostics 0 0 0 0 3 0 0 3
Counsyl 0 10 0 1 0 0 2 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 1 0 1 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 4 0 2 1 0 0 3
OMIM 0 9 0 1 0 1 0 2
Revvity Omics, Revvity 0 2 0 0 1 0 1 2
MGZ Medical Genetics Center 0 2 0 1 0 0 1 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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 0 0 1 0 1 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 1 1 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 1 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 0 1 1 0 0 2
BRCAlab, Lund University 0 4 0 1 0 0 1 2
All of Us Research Program, National Institutes of Health 0 5 0 0 0 0 2 2
Clinical Genetics, Academic Medical Center 0 0 0 1 0 0 0 1
Natera, Inc. 0 3 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 0 0 0 1 0 0 1
GeneReviews 0 3 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 5 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 0 0 0 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 0 0 0 0 1 1
GeneKor MSA 0 0 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 4 0 0 0 0 1 1
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 1 0 1 0 0 0 1
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 0 0 0 0 1 1
Clingen PTEN Variant Curation Expert Panel, Clingen 0 0 0 0 0 0 1 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 3 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 0 0 0 0 1 1
Genome-Nilou Lab 0 2 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 4 0 1 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 0 0 1 0 0 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 0 0 0 0 1 1
Department of Medical and Surgical Sciences, University of Bologna 0 0 0 0 0 0 1 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 0 0 1 1
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 102
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.*239C>T rs113516368 0.00237
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_002878.4(RAD51D):c.904-3C>T rs45478491 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_000059.4(BRCA2):c.750G>A (p.Val250=) rs143214959 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_007294.4(BRCA1):c.301+55G>A rs868735744 0.00005
NM_000720.4(CACNA1D):c.1127C>T (p.Ala376Val) rs759274321 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) rs370422990 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_032043.3(BRIP1):c.297C>T (p.Asp99=) rs201617644 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000059.4(BRCA2):c.9648+127G>A rs182622896 0.00003
NM_001378457.1(DMXL2):c.7250G>A (p.Arg2417His) rs754786373 0.00003
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile) rs35184530 0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val) rs375131360 0.00002
NM_000059.4(BRCA2):c.8331+3A>C rs876659382 0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) rs749798053 0.00002
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu) rs778251205 0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly) rs80358970 0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys) rs41293517 0.00001
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu) rs80359159 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_024675.4(PALB2):c.2204C>T (p.Pro735Leu) rs199743500 0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622 0.00001
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.3154-1G>A rs1555085973
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5674+1G>T rs1565482453
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.8011-6T>G rs762092284
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000059.4(BRCA2):c.128A>G (p.Asn43Ser) rs2072285447
NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala) rs786203080
NM_000059.4(BRCA2):c.517-2A>G rs81002858
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.7559G>C (p.Arg2520Pro) rs80358982
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.9344A>G (p.Lys3115Arg) rs276174923
NM_000141.5(FGFR2):c.1274G>A (p.Arg425Gln)
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly) rs1555090196
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser) rs1201586094
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter) rs530520654
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu) rs2129309208
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) rs1219724284
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser) rs1409565648
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.159T>G (p.Cys53Trp) rs201708813
NM_000465.4(BARD1):c.212G>A (p.Cys71Tyr) rs1064793959
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg) rs1559437198
NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=) rs774544844
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007294.4(BRCA1):c.135-20T>G rs80358025
NM_007294.4(BRCA1):c.4185+31TG[3] rs760098710
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5097G>A (p.Arg1699=) rs2051927969
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.5454C>T (p.Asp1818=) rs1555574705
NM_007294.4(BRCA1):c.81T>C (p.Cys27=) rs587780805
NM_015340.4(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser) rs1060499791
NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser) rs1060499792
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.683A>T (p.Asp228Val) rs1060499788
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro) rs1060499790
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser) rs515726094
NM_032043.3(BRIP1):c.2372A>T (p.Asp791Val) rs876658934
NM_032043.3(BRIP1):c.93+1G>A rs587782047
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=) rs1060499796
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu) rs727504599
NM_182548.4(LHFPL5):c.1A>G (p.Met1Val) rs1060499810
PALB2:c.2515-1G>T rs587776417

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