ClinVar Miner

Variants from Personalized Diabetes Medicine Program,University of Maryland School of Medicine with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Personalized Diabetes Medicine Program,University of Maryland School of Medicine: Collection method of the submission from Personalized Diabetes Medicine Program,University of Maryland School of Medicine:
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
93 45 1 67 61 4 9 123

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
Personalized Diabetes Medicine Program,University of Maryland School of Medicine pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor
uncertain significance 3 4 1 27 13 0 0
likely benign 0 1 21 0 34 1 1
benign 2 0 7 33 0 1 1

Submitter to submitter summary #

Total submitters: 26
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
Invitae 0 46 0 29 34 0 1 64
Illumina Clinical Services Laboratory,Illumina 0 17 0 25 5 0 1 31
Genetic Services Laboratory, University of Chicago 0 24 0 11 13 0 2 26
GeneDx 0 38 0 11 12 0 1 24
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 19 0 7 13 0 1 21
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 27 0 11 7 0 0 18
Athena Diagnostics Inc 0 20 0 5 3 0 1 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 15 0 7 2 0 0 9
OMIM 0 0 0 0 2 2 3 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 5 0 1 5 0 0 6
Integrated Genetics/Laboratory Corporation of America 0 9 1 4 1 0 1 6
Mendelics 0 7 0 3 2 0 0 5
PreventionGenetics,PreventionGenetics 0 15 0 3 1 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 10 0 0 4 0 0 4
Counsyl 0 3 0 0 2 0 1 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 0 2 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 1 0 0 2
UCL Genetics Institute,UCL 0 0 0 0 0 2 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 1 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 0 1 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 0 0 1 0 0 1
Color 0 0 0 1 0 0 0 1
Translational Genomics Laboratory,University of Maryland School of Medicine 0 0 0 0 0 0 1 1
Phosphorus, Inc. 0 0 0 0 1 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 123
Download table as spreadsheet
HGVS dbSNP
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.5(GCK):c.146C>A (p.Thr49Asn) rs193922286
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) rs150114699
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.714_716GCC[6] (p.Pro244dup) rs193922357
NM_000230.3(LEP):c.280G>A (p.Val94Met) rs17151919
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863
NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile) rs121909741
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly) rs147816724
NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930
NM_000525.3(KCNJ11):c.808C>G (p.Leu270Val) rs1800467
NM_000545.6(HNF1A):c.1722C>A (p.Gly574=) rs141304623
NM_000545.6(HNF1A):c.293C>T (p.Ala98Val) rs1800574
NM_000545.6(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072
NM_001042413.2(GLIS3):c.1085C>A (p.Pro362Gln) rs146131512
NM_001042413.2(GLIS3):c.1126C>T (p.Pro376Ser) rs76342955
NM_001042413.2(GLIS3):c.1191G>C (p.Gln397His) rs138497710
NM_001042413.2(GLIS3):c.1318A>G (p.Thr440Ala) rs80161424
NM_001042413.2(GLIS3):c.2095C>T (p.Arg699Cys) rs145867412
NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly) rs148168366
NM_001042413.2(GLIS3):c.2686C>T (p.Leu896Phe) rs76094493
NM_001042413.2(GLIS3):c.844C>G (p.Pro282Ala) rs143051164
NM_001042413.2(GLIS3):c.893C>A (p.Ser298Tyr) rs148572278
NM_001042413.2(GLIS3):c.938G>C (p.Gly313Ala) rs35154632
NM_001287174.2(ABCC8):c.2995C>T (p.Arg999Ter) rs769518471
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys) rs144792551
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser) rs3824004
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580
NM_001715.3(BLK):c.177C>G (p.Asp59Glu) rs146083915
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736
NM_002303.5(LEPR):c.3019A>T (p.Ser1007Cys) rs145651189
NM_002500.4(NEUROD1):c.590C>A (p.Pro197His) rs8192556
NM_002666.5(PLIN1):c.107G>T (p.Cys36Phe) rs140081686
NM_002666.5(PLIN1):c.1139C>T (p.Ala380Val) rs146385147
NM_002666.5(PLIN1):c.692G>T (p.Arg231Leu) rs114583540
NM_002666.5(PLIN1):c.812C>T (p.Ala271Val) rs58361219
NM_002666.5(PLIN1):c.814G>A (p.Val272Met) rs145476436
NM_002711.4(PPP1R3A):c.1217A>C (p.Glu406Ala) rs138812345
NM_002711.4(PPP1R3A):c.1915G>T (p.Gly639Cys) rs61756423
NM_003597.5(KLF11):c.410A>G (p.Asp137Gly) rs145933214
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln) rs150096859
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu) rs75385605
NM_005257.5(GATA6):c.1723G>C (p.Ala575Pro) rs149569288
NM_005257.5(GATA6):c.851C>G (p.Ala284Gly) rs185325359
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928
NM_005327.5(HADH):c.275T>G (p.Phe92Cys) rs61735992
NM_005327.5(HADH):c.456G>T (p.Gln152His) rs1051519
NM_005327.5(HADH):c.643C>A (p.Pro215Thr) rs140413151
NM_005327.5(HADH):c.662G>A (p.Arg221His) rs76476980
NM_005327.5(HADH):c.881A>G (p.Asn294Ser) rs36030668
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) rs772393451
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) rs144840779
NM_006005.3(WFS1):c.227G>T (p.Gly76Val) rs200135768
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623
NM_006005.3(WFS1):c.2563T>C (p.Ser855Pro) rs141833472
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) rs112871383
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699
NM_006412.4(AGPAT2):c.340C>T (p.Arg114Cys) rs142145391
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240
NM_006412.4(AGPAT2):c.640A>G (p.Lys214Glu) rs142248792
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val) rs142417583
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) rs75099879
NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu) rs61734338
NM_012232.6(CAVIN1):c.65C>T (p.Pro22Leu) rs61729285
NM_014009.3(FOXP3):c.176C>G (p.Ser59Cys) rs199917616
NM_015120.4(ALMS1):c.10275G>C (p.Lys3425Asn) rs34398445
NM_015120.4(ALMS1):c.10306A>G (p.Lys3436Glu) rs34071195
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) rs45501594
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.1456A>G (p.Ile486Val) rs73945001
NM_015120.4(ALMS1):c.1841G>A (p.Gly614Asp) rs148040591
NM_015120.4(ALMS1):c.1874A>G (p.His625Arg) rs41291187
NM_015120.4(ALMS1):c.2041C>G (p.Arg681Gly) rs115444326
NM_015120.4(ALMS1):c.4166C>T (p.Pro1389Leu) rs377354387
NM_015120.4(ALMS1):c.4991C>T (p.Thr1664Ile) rs188807564
NM_015120.4(ALMS1):c.5436G>C (p.Lys1812Asn) rs78039319
NM_015120.4(ALMS1):c.614A>C (p.Glu205Ala) rs200054604
NM_015120.4(ALMS1):c.6364G>C (p.Val2122Leu) rs200368564
NM_015120.4(ALMS1):c.6467A>G (p.Asp2156Gly) rs58093963
NM_015120.4(ALMS1):c.6556C>T (p.Pro2186Ser) rs77555300
NM_015120.4(ALMS1):c.6755A>G (p.Asp2252Gly) rs28730855
NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) rs75145370
NM_015120.4(ALMS1):c.8260C>A (p.His2754Asn) rs200718841
NM_015120.4(ALMS1):c.8838C>G (p.Asn2946Lys) rs35062203
NM_015120.4(ALMS1):c.9392C>G (p.Pro3131Arg) rs200586877
NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro) rs145649423
NM_032667.6(BSCL2):c.1175G>A (p.Arg392His) rs149466797
NM_170707.4(LMNA):c.1698+14G>A rs200917748
NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro) rs146115506
NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys) rs146081967
NM_173560.4(RFX6):c.2176C>G (p.Arg726Gly) rs144648002
NM_173560.4(RFX6):c.2561C>T (p.Ser854Leu) rs201522681
NM_173560.4(RFX6):c.50C>A (p.Ala17Glu) rs9489056
NM_175914.4(HNF4A):c.350C>T (p.Thr117Ile) rs1800961
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) rs535090775

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