ClinVar Miner

Variants from Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital with conflicting interpretations

Location: India  Primary collection method: clinical testing
Minimum review status of the submission from Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital: Collection method of the submission from Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital:
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
130 49 0 65 0 1 15 73

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
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital pathogenic likely pathogenic uncertain significance benign risk factor
pathogenic 0 52 8 1 0
likely pathogenic 13 0 5 0 1
uncertain significance 1 2 0 0 0

Submitter to submitter summary #

Total submitters: 43
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
Counsyl 0 9 0 18 0 0 4 22
Invitae 0 47 0 15 0 0 3 18
Baylor Genetics 0 32 0 9 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 10 0 5 0 0 1 6
Genome-Nilou Lab 0 12 0 5 0 0 1 6
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 3 0 4 0 0 1 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 18 0 4 0 0 0 4
Illumina Laboratory Services, Illumina 0 2 0 1 0 0 3 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 3 0 0 1 4
OMIM 0 23 0 2 0 1 0 3
Mendelics 0 2 0 1 0 0 2 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 8 0 2 0 0 1 3
Myriad Genetics, Inc. 0 3 0 3 0 0 0 3
Lifecell International Pvt. Ltd 0 1 0 3 0 0 0 3
Natera, Inc. 0 18 0 1 0 0 1 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1 0 0 1 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 6 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 1 0 0 0 1
Ambry Genetics 0 1 0 1 0 0 0 1
Revvity Omics, Revvity 0 9 0 0 0 0 1 1
MGZ Medical Genetics Center 0 3 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 5 0 1 0 0 0 1
GenePathDx, GenePath diagnostics 0 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 4 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 3 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 3 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 0 0 1 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 0 0 1 0 0 0 1
3billion 0 14 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 10 0 0 0 0 1 1
Molecular Endocrinology Laboratory, Christian Medical College 0 0 0 0 0 0 1 1
Arcensus 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 73
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro) rs200005406 0.00039
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283 0.00007
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_000187.4(HGD):c.347T>C (p.Leu116Pro) rs569846003 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_001182.5(ALDH7A1):c.1411_1412insG (p.Leu471fs) rs772766995 0.00002
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) rs1403885484 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692 0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749 0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) rs879253815 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_000061.3(BTK):c.842G>A (p.Trp281Ter) rs2147431031
NM_000061.3(BTK):c.998A>G (p.His333Arg) rs193922133
NM_000128.4(F11):c.218+4A>G rs767240420
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr) rs137854471
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp) rs2039143109
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu) rs2039212985
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg) rs1327361418
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467
NM_000152.5(GAA):c.546+2_546+5del rs1181354869
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu) rs779383393
NM_000218.3(KCNQ1):c.1686-2A>G rs878854350
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe) rs794728536
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs) rs763462603
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.184-1G>A rs879253807
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) rs774949844
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000500.9(CYP21A2):c.1118G>A (p.Ser373Asn) rs1554305880
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) rs397509367
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter) rs863225262
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile) rs1057519528
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs) rs587776895
NM_001182.5(ALDH7A1):c.187G>T (p.Gly63Ter) rs760636660
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe) rs397515328
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598
NM_014055.4(IFT81):c.134T>C (p.Ile45Thr) rs1227213671
NM_172250.3(MMAA):c.562+1G>A rs869320656
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn) rs796051939
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) rs869312126

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