ClinVar Miner

Variants from Lifecell International Pvt. Ltd with conflicting interpretations

Location: India  Primary collection method: clinical testing
Minimum review status of the submission from Lifecell International Pvt. Ltd: Collection method of the submission from Lifecell International Pvt. Ltd:
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
140 106 2 97 1 0 22 109

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
Lifecell International Pvt. Ltd pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 2 48 9 0 0
likely pathogenic 48 0 11 0 1
uncertain significance 0 0 0 1 1
benign 1 1 0 1 0

Submitter to submitter summary #

Total submitters: 77
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 66 0 28 1 0 2 31
Baylor Genetics 0 41 0 13 0 0 2 15
Counsyl 0 14 0 10 0 0 2 12
OMIM 0 47 0 11 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 26 0 11 0 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 13 0 7 0 0 3 10
Fulgent Genetics, Fulgent Genetics 0 20 0 8 0 0 0 8
Revvity Omics, Revvity 0 33 0 5 0 0 2 7
3billion 0 20 0 6 0 0 1 7
Natera, Inc. 0 15 0 4 0 0 2 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 12 0 6 0 0 0 6
Genome-Nilou Lab 0 9 0 6 0 0 0 6
Centogene AG - the Rare Disease Company 0 10 0 5 0 0 0 5
Mendelics 0 17 0 2 1 0 2 5
Myriad Genetics, Inc. 0 13 0 4 0 0 1 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 6 0 2 0 0 2 4
Institute of Human Genetics, University of Leipzig Medical Center 0 16 0 4 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 32 0 3 0 0 1 4
Genetic Services Laboratory, University of Chicago 0 7 0 3 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 3 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 11 0 3 0 0 0 3
Illumina Laboratory Services, Illumina 0 12 0 2 0 0 1 3
SIB Swiss Institute of Bioinformatics 0 1 0 3 0 0 0 3
Suma Genomics 0 8 0 3 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 0 0 0 1 0 0 1 2
GeneReviews 0 32 2 0 0 0 0 2
RettBASE 0 2 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 4 0 1 0 0 1 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 6 0 1 0 0 1 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 2 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 2 2
Reproductive Health Research and Development, BGI Genomics 0 1 0 2 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 2 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 6 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 1 0 2 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 3 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 5 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 3 0 0 0 0 1 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 3 0 1 0 0 0 1
CFTR2 0 1 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 18 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 1 0 0 0 1
Center for Bioinformatics, Peking University 0 7 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 1 0 0 0 1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 2 0 0 0 0 1 1
Clinical Genetics Laboratory, Region Ostergotland 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 3 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 8 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 8 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 1 0 0 0 1
Department of Pediatrics, Gifu University 0 0 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 0 1
CFTR-France 0 2 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 0 0 1 0 0 0 1
Pediatrics, MediClubGeorgia 0 0 0 1 0 0 0 1
Paris Brain Institute, Inserm - ICM 0 0 0 1 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
DASA 0 5 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 6 0 1 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 0 0 0 1 0 0 0 1
Dunham Lab, University of Washington 0 9 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 4 0 1 0 0 0 1
Centre for Population Genomics, CPG 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 109
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala) rs36117895 0.03931
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe) rs527297896 0.00049
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter) rs200693133 0.00012
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_000187.4(HGD):c.365C>T (p.Ala122Val) rs544956641 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00004
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter) rs777181377 0.00004
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) rs766835582 0.00004
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu) rs151107837 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro) rs28929768 0.00002
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His) rs104894155 0.00002
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349 0.00002
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_020778.5(ALPK3):c.297del (p.Ile99fs) rs770674513 0.00002
NM_181705.4(LYRM7):c.2T>C (p.Met1Thr) rs531275086 0.00002
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu) rs398124561 0.00002
NM_000049.4(ASPA):c.503G>A (p.Arg168His) rs770706390 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln) rs1304714042 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_003676.4(DEGS1):c.517C>T (p.Arg173Ter) rs932183417 0.00001
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266 0.00001
NM_015330.6(SPECC1L):c.3247G>A (p.Gly1083Ser) rs786201031 0.00001
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) rs281865026 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000045.4(ARG1):c.32T>C (p.Ile11Thr) rs28941474
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr) rs1603321148
NM_000111.3(SLC26A3):c.392C>T (p.Pro131Leu) rs386833481
NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter)
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu) rs878853322
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs) rs1784335277
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr) rs730880298
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) rs757768731
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg) rs61749723
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys) rs796052973
NM_001165963.4(SCN1A):c.264+4_264+7del rs1574370981
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg) rs121918796
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg) rs2148612918
NM_003106.4(SOX2):c.389G>C (p.Gly130Ala) rs121918652
NM_003172.4(SURF1):c.324-11T>G rs375398247
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598
NM_004429.5(EFNB1):c.499+1G>A rs1556107481
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln) rs199788797
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter) rs1157413766
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917
NM_016525.5(UBAP1):c.426_427del (p.Lys143fs) rs1563920252
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) rs780953224
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter) rs1563669432
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter) rs606231237
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_152424.4(AMER1):c.1489C>T (p.Arg497Ter) rs1930251154
NM_206933.4(USH2A):c.675_678del (p.Phe225fs) rs2102708663

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.