ClinVar Miner

Variants from Kariminejad - Najmabadi Pathology & Genetics Center with conflicting interpretations

Location: Iran, Islamic Republic of  Primary collection method: clinical testing
Minimum review status of the submission from Kariminejad - Najmabadi Pathology & Genetics Center: Collection method of the submission from Kariminejad - Najmabadi Pathology & Genetics Center:
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
490 101 0 76 3 0 21 93

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
Kariminejad - Najmabadi Pathology & Genetics Center pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 27 3 0 0
likely pathogenic 49 0 16 0 1
uncertain significance 0 1 0 2 1

Submitter to submitter summary #

Total submitters: 38
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 23 0 25 2 0 2 29
GeneDx 0 80 0 20 0 0 5 25
CeGaT Center for Human Genetics Tuebingen 0 46 0 17 2 0 1 20
Revvity Omics, Revvity 0 39 0 14 0 0 1 15
Eurofins Ntd Llc (ga) 0 49 0 11 0 0 3 14
PreventionGenetics, part of Exact Sciences 0 15 0 8 1 0 1 10
Athena Diagnostics 0 25 0 5 0 0 1 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 19 0 5 0 0 1 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 9 0 4 0 0 2 6
Baylor Genetics 0 5 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 9 0 2 0 0 1 3
Mayo Clinic Laboratories, Mayo Clinic 0 12 0 3 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 0 4 0 3 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 4 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 5 0 2 0 0 1 3
OMIM 0 1 0 2 0 0 0 2
Clinical Genetics, Academic Medical Center 0 4 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 5 0 1 0 0 1 2
Illumina Laboratory Services, Illumina 0 2 0 0 0 0 2 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 6 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 8 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 2 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 2 0 1 0 0 1 2
All of Us Research Program, National Institutes of Health 0 0 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1 0 0 0 1
Ambry Genetics 0 1 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 6 0 1 0 0 0 1
Natera, Inc. 0 4 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
Blueprint Genetics 0 1 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 0 0 1 1
Yale Center for Mendelian Genomics, Yale University 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 2 0 1 0 0 0 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 0 0 1 0 0 0 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 1 0 0 0 0 1 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 93
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His) rs76458556 0.00145
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) rs543697946 0.00006
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986 0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His) rs121918718 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) rs760956030 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) rs761714818 0.00004
NM_000789.4(ACE):c.1486C>T (p.Arg496Ter) rs397514688 0.00003
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207 0.00002
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg) rs121918375 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_018344.6(SLC29A3):c.401G>A (p.Arg134His) rs761175955 0.00002
NM_138370.3(PKDCC):c.785T>G (p.Leu262Arg) rs373676533 0.00002
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His) rs199472800 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 0.00001
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001374828.1(ARID1B):c.5902C>T (p.Arg1968Cys) rs766931727 0.00001
NM_004614.5(TK2):c.311G>A (p.Arg104His) rs770318536 0.00001
NM_006129.5(BMP1):c.34G>C (p.Gly12Arg) rs318240762 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter) rs763325410 0.00001
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter) rs1580023012
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser) rs66527965
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe) rs1555394398
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) rs121913648
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) rs121908556
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000359.3(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000372.5(TYR):c.996G>A (p.Met332Ile) rs2135253415
NM_000426.4(LAMA2):c.6038del (p.Leu2012_Leu2013insTer) rs398123380
NM_000454.5(SOD1):c.313A>T (p.Ile105Phe) rs121912445
NM_000494.4(COL17A1):c.3579G>A (p.Trp1193Ter) rs1237394833
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.14437C>T (p.His4813Tyr) rs2145895177
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001159699.2(FHL1):c.509A>C (p.His170Pro) rs1484795726
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp) rs1553704446
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505
NM_001927.4(DES):c.1289-2A>G rs398122940
NM_002334.4(LRP4):c.3698A>C (p.Glu1233Ala) rs1940998166
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser) rs1589630141
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_005562.3(LAMC2):c.3365T>G (p.Leu1122Ter) rs1660173338
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val) rs142762839
NM_014363.6(SACS):c.3281dup (p.Asn1094fs) rs2137636957
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_020919.4(ALS2):c.1640+1G>A rs2106074229
NM_024747.6(HPS6):c.1692dup (p.Phe565fs) rs1384342700
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_213653.4(HJV):c.950G>A (p.Cys317Tyr) rs1553769457

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