ClinVar Miner

Variants from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota: Collection method of the submission from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota:
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
301 95 1 95 1 1 36 123

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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota pathogenic likely pathogenic uncertain significance likely benign established risk allele
pathogenic 0 23 5 0 0
likely pathogenic 72 1 29 1 1
uncertain significance 0 1 0 1 0

Submitter to submitter summary #

Total submitters: 53
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
Labcorp Genetics (formerly Invitae), Labcorp 0 38 0 31 1 0 14 46
Baylor Genetics 0 37 0 21 0 0 3 24
OMIM 0 21 0 17 0 0 0 17
Counsyl 0 6 0 6 0 0 6 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 25 0 9 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 31 0 8 0 0 0 8
Genome-Nilou Lab 0 24 0 5 0 0 3 8
Natera, Inc. 0 16 0 3 0 0 3 6
Leiden Open Variation Database 0 8 0 4 0 0 2 6
Institute of Human Genetics, University of Leipzig Medical Center 0 4 0 5 0 0 0 5
3billion 0 8 0 3 0 0 1 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 0 2 0 0 1 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 4 0 2 0 0 1 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 0 2 0 1 0 3
ClinGen PAH Variant Curation Expert Panel 0 0 0 2 0 0 1 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 2 0 0 1 3
Genomics England Pilot Project, Genomics England 0 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 9 0 2 0 0 0 2
Revvity Omics, Revvity 0 8 0 2 0 0 0 2
MGZ Medical Genetics Center 0 2 0 1 0 0 1 2
Mendelics 0 1 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 0 2 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 1 2
Myriad Genetics, Inc. 0 5 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 0 0 1 0 0 0 1
GeneReviews 0 11 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 0 0 1 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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 Medicine, Manchester, Central Manchester University Hospitals 0 0 0 1 0 0 0 1
Research Group Niklas Dahl, Uppsala University 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 6 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 1 0 0 0 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 2 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 1 0 0 0 1
Breda Genetics srl 0 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 0 1 0 0 0 1
Department of Medical Genetics, Hue University of Medicine and Pharmacy 0 0 0 1 0 0 0 1
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 0 1 0 0 0 0 1 1
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 0 0 0 0 0 1 1
Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires 0 1 0 1 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 0 1 0 0 0 1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 0 0 0 1 0 0 0 1
Geisinger Clinic, Geisinger Health System 0 0 0 1 0 0 0 1
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 0 0 0 1 0 0 0 1
All of Us Research Program, National Institutes of Health 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 123
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06828
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00129
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00051
NM_007113.4(TCHH):c.991C>T (p.Gln331Ter) rs201930497 0.00039
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00016
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00009
NM_000275.3(OCA2):c.1503+5G>A rs368124046 0.00008
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00004
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476 0.00004
NM_000033.4(ABCD1):c.92A>G (p.Lys31Arg) rs782454198 0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter) rs530874854 0.00003
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter) rs1220930025 0.00003
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025 0.00002
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr) rs62514902 0.00002
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_000018.4(ACADVL):c.894G>A (p.Lys298=) rs749598830 0.00001
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000212.3(ITGB3):c.778-2A>G rs749261962 0.00001
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys) rs121912482 0.00001
NM_000271.5(NPC1):c.743G>T (p.Gly248Val) rs1230538609 0.00001
NM_000295.5(SERPINA1):c.115C>A (p.His39Asn) rs138070585 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000504.4(F10):c.1073C>T (p.Thr358Met) rs768222784 0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_001018115.3(FANCD2):c.1278+6T>C rs779894573 0.00001
NM_001252024.2(TRPM1):c.279+147T>G rs150441866 0.00001
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947 0.00001
NM_003119.4(SPG7):c.861+1G>C rs1412575396 0.00001
NM_004249.4(RAB28):c.651T>G (p.Cys217Trp) rs751163782 0.00001
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser) rs121909059 0.00001
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930 0.00001
NM_054012.4(ASS1):c.174+1G>T rs748264993 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277 0.00001
NM_153006.3(NAGS):c.1268+2T>C rs202041339 0.00001
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro) rs2148399015
NM_000033.4(ABCD1):c.2135G>A (p.Arg712His) rs1557055447
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) rs1569540695
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val) rs2091709505
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174
NM_000044.6(AR):c.2170C>T (p.Pro724Ser) rs2147525357
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer) rs1555091238
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000053.4(ATP7B):c.4120A>C (p.Lys1374Gln)
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000094.4(COL7A1):c.6017G>A (p.Gly2006Asp) rs121912842
NM_000129.4(F13A1):c.2110C>T (p.Arg704Trp) rs267606787
NM_000133.4(F9):c.*1157A>G rs1317977313
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675
NM_000217.3(KCNA1):c.745T>C (p.Phe249Leu) rs104894356
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg) rs2058637844
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs) rs2548671260
NM_000277.3(PAH):c.473G>C (p.Arg158Pro) rs5030843
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup) rs387906530
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000397.4(CYBB):c.1237dup (p.Val413fs) rs1569480031
NM_000426.4(LAMA2):c.2749+1G>A rs759555791
NM_000478.6(ALPL):c.247G>T (p.Glu83Ter) rs2148152544
NM_000478.6(ALPL):c.318G>C (p.Gln106His) rs1553412268
NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter) rs199469504
NM_000496.3(CRYBB2):c.355G>A (p.Gly119Arg) rs864309698
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala) rs45484892
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) rs397515206
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro) rs1567458244
NM_000642.3(AGL):c.4259+5G>A rs780504025
NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs) rs1569236971
NM_001042492.3(NF1):c.4316T>A (p.Leu1439Ter) rs1567862071
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs) rs1569291627
NM_001163435.3(TBCK):c.1771C>T (p.Gln591Ter) rs1057518332
NM_001164508.2(NEB):c.23378del (p.Met7793fs) rs1553603690
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr) rs281860274
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001375380.1(EBF3):c.487C>T (p.Arg163Trp) rs1057519092
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1]) rs1064793104
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs) rs386134225
NM_003239.5(TGFB3):c.956C>T (p.Pro319Leu) rs1595337739
NM_004183.4(BEST1):c.915T>G (p.Phe305Leu) rs1565036465
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) rs780246932
NM_005859.5(PURA):c.407_420dup (p.Ala142fs) rs1561793219
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) rs1855655612
NM_006019.4(TCIRG1):c.418-21A>G rs1855249165
NM_014516.4(CNOT3):c.732dup (p.Ser245fs) rs753475896
NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp) rs1556007534
NM_020366.4(RPGRIP1):c.673del (p.His225fs) rs752263228
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033409.4(SLC52A3):c.753del (p.Val252fs) rs1568721373
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138694.4(PKHD1):c.1227del (p.Thr410fs) rs1808421350
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter) rs794727756
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) rs180177374
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530

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