ClinVar Miner

Variants from UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill: Collection method of the submission from UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill:
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
178 80 7 56 4 1 11 71

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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 7 16 3 0 0 0
likely pathogenic 40 0 5 0 1 1
uncertain significance 2 1 0 4 0 0

Submitter to submitter summary #

Total submitters: 46
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
Invitae 0 80 0 24 3 0 2 29
OMIM 0 33 0 14 0 0 0 14
GeneReviews 0 16 7 3 0 0 1 11
Illumina Clinical Services Laboratory,Illumina 0 26 0 8 0 0 2 10
Integrated Genetics/Laboratory Corporation of America 0 27 0 6 0 0 1 7
Baylor Genetics 0 18 0 4 0 0 2 6
Counsyl 0 6 0 5 0 0 1 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 7 0 4 0 0 1 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 14 0 4 0 0 0 4
Natera, Inc. 0 24 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 2 0 0 1 3
Genetic Services Laboratory, University of Chicago 0 9 0 1 0 1 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 7 0 1 1 0 0 2
Mendelics 0 14 0 1 0 0 1 2
Fulgent Genetics,Fulgent Genetics 0 18 0 2 0 0 0 2
Research and Development, ARUP Laboratories 0 2 1 0 0 0 1 2
Reproductive Health Research and Development,BGI Genomics 0 5 0 2 0 0 0 2
Myriad Women's Health, Inc. 0 24 0 2 0 0 0 2
GeneDx 0 4 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1 1
Elsea Laboratory,Baylor College of Medicine 0 1 0 0 0 0 1 1
Institute of Human Genetics,Cologne University 0 0 0 1 0 0 0 1
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 0 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 3 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 7 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 17 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 0 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 1 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 1 0 0 0 1
Color Health, Inc 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
Fundacion Hipercolesterolemia Familiar 0 0 0 1 0 0 0 1
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital 0 2 0 1 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 4 0 0 0 0 1 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1 0 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 6 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 5 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 2 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 1 0 0 0 0 1 1
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 0 0 1 0 0 0 1
LifeCell International Pvt. Ltd 0 1 0 0 0 0 1 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 71
Download table as spreadsheet
HGVS dbSNP
NC_000005.10:g.13721172C>T
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000128.3(F11):c.1489C>T (p.Arg497Ter) rs375422404
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000553.6(WRN):c.561A>G (p.Lys187=) rs775802030
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732
NM_001010892.3(RSPH4A):c.1490dup (p.Ser498fs)
NM_001038603.3(MARVELD2):c.1183-1G>A rs200781822
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570
NM_001142279.2(RNASEH2B):c.2T>C (p.Met1Thr) rs1457494794
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001206927.2(DNAH8):c.12100C>T (p.Leu4034Phe) rs146505940
NM_001277115.2(DNAH11):c.2783A>T (p.Asp928Val) rs201386161
NM_001277115.2(DNAH11):c.4095+2C>A rs532007878
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001369.2(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500
NM_001369.2(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861
NM_001369.2(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs) rs767779749
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter)
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003401.5(XRCC4):c.25del (p.His9fs) rs869320677
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_005105.5(RBM8A):c.-21G>A rs139428292
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178
NM_006941.4(SOX10):c.482G>A (p.Arg161His)
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter)
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs) rs1567818236
NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter) rs201213030
NM_022464.5(SIL1):c.645+2T>C
NM_024022.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_024422.6(DSC2):c.631-2A>G rs397514042
NM_025114.4(CEP290):c.4437+1G>A rs760915898
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_144612.6(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys) rs144018942
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_203447.3(DOCK8):c.54-1G>T rs192864327
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367

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