ClinVar Miner

Variants from Pars Genome Lab with conflicting interpretations

Location: Iran, Islamic Republic of  Primary collection method: clinical testing
Minimum review status of the submission from Pars Genome Lab: Collection method of the submission from Pars Genome Lab:
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
225 213 0 56 66 0 17 116

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
Pars Genome Lab pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 8 1 0 0
likely pathogenic 3 0 3 0 1
uncertain significance 4 5 0 14 12
likely benign 2 2 35 0 26
benign 1 1 12 19 0

Submitter to submitter summary #

Total submitters: 41
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
Illumina Laboratory Services, Illumina 0 134 0 18 31 0 0 48
Invitae 0 84 0 17 16 0 2 35
Natera, Inc. 0 100 0 12 8 0 0 20
Counsyl 0 11 0 2 4 0 2 8
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 8 0 0 8
Baylor Genetics 0 11 0 0 2 0 5 7
Mendelics 0 12 0 2 1 0 4 7
OMIM 0 2 0 1 2 0 2 5
Fulgent Genetics, Fulgent Genetics 0 11 0 4 0 0 1 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 25 0 2 1 0 0 3
GeneReviews 0 1 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 2 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 1 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 1 0 0 1 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 2 0 0 2
Genome-Nilou Lab 0 147 0 1 1 0 0 2
Eurofins-Biomnis 0 0 0 1 0 0 1 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 0 0 0 2
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 1 2
Athena Diagnostics Inc 0 7 0 1 0 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 4 0 1 0 0 0 1
Ambry Genetics 0 5 0 0 1 0 0 1
Clinical Biochemistry Laboratory, Health Services Laboratory 0 0 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 2 0 1 0 0 0 1
Revvity Omics, Revvity 0 5 0 0 1 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 0 1 0 0 0 1
Sema4, Sema4 0 0 0 1 0 0 0 1
LDLR-LOVD, British Heart Foundation 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 1 0 0 1
Color Diagnostics, LLC DBA Color Health 0 1 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 0 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 11 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 0 1 0 0 1
Clinical Laboratory, Xuzhou Maternity and Child Health Care Hospital 0 0 0 0 0 0 1 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 0 0 1 0 0 1
Breda Genetics srl 0 0 0 1 0 0 0 1
Myriad Genetics, Inc. 0 2 0 0 0 0 1 1
3billion 0 3 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 1 0 0 0 1
Medical Genetics Laboratory, Etlik City Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 116
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2390+219T>C rs4148632 0.89524
NM_000352.6(ABCC8):c.2256-50T>C rs4148626 0.89459
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_000352.6(ABCC8):c.2390+123C>T rs4148631 0.70926
NM_000352.6(ABCC8):c.2390+93C>T rs4148630 0.70902
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_000352.6(ABCC8):c.4120-27T>C rs739689 0.45032
NM_000277.3(PAH):c.441+47C>T rs1718301 0.37849
NM_000352.6(ABCC8):c.4609-40A>G rs1109591 0.36421
NM_000277.3(PAH):c.60+62C>T rs1522296 0.34408
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752 0.29673
NM_000352.6(ABCC8):c.4119+93G>T rs4148644 0.21307
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile) rs17263496 0.10451
NM_003060.4(SLC22A5):c.1052+101A>G rs2073645 0.06948
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02976
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_003659.4(AGPS):c.147C>T (p.Pro49=) rs34442536 0.01033
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00900
NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=) rs145186782 0.00836
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796 0.00550
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_017739.4(POMGNT1):c.-11G>A rs80107141 0.00484
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708 0.00406
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=) rs201446579 0.00245
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329 0.00226
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881 0.00220
NM_001039396.2(MPEG1):c.217A>G (p.Thr73Ala) rs143527301 0.00215
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=) rs115049252 0.00145
NM_201253.3(CRB1):c.2307C>T (p.Arg769=) rs151104285 0.00143
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498 0.00138
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423 0.00096
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val) rs35486059 0.00087
NM_000023.4(SGCA):c.843C>A (p.Ala281=) rs149487996 0.00080
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=) rs146115467 0.00058
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492 0.00051
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val) rs145602856 0.00036
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00020
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226 0.00015
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019 0.00015
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965 0.00014
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu) rs35194393 0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=) rs139270936 0.00013
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446 0.00011
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832 0.00011
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000159.4(GCDH):c.1299G>A (p.Ala433=) rs150271870 0.00008
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp) rs200559481 0.00008
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_002529.4(NTRK1):c.585G>A (p.Thr195=) rs182531655 0.00007
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter) rs776962899 0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_020533.3(MCOLN1):c.783G>A (p.Thr261=) rs200484869 0.00006
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_054012.4(ASS1):c.786C>T (p.Gly262=) rs536799104 0.00003
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_000070.3(CAPN3):c.1947G>A (p.Glu649=) rs79440238 0.00001
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000070.3(CAPN3):c.2380+2T>G rs761935462
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000329.3(RPE65):c.1451-1G>A rs1317871521
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_002435.3(MPI):c.678C>A (p.Ala226=) rs199972529
NM_003282.4(TNNI2):c.524AGA[1] (p.Lys176del) rs199474801
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser) rs200928985
NM_004425.4(ECM1):c.806G>A (p.Cys269Tyr) rs756977475
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.