ClinVar Miner

Variants from Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences with conflicting interpretations

Location: India  Primary collection method: clinical testing
Minimum review status of the submission from Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences: Collection method of the submission from Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
127 64 0 43 0 7 3 48

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
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences pathogenic likely pathogenic uncertain significance affects
pathogenic 0 27 1 6
likely pathogenic 16 0 2 1

Submitter to submitter summary #

Total submitters: 28
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
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 39 0 14 0 0 0 14
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 0 0 0 0 7 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 15 0 6 0 0 1 7
Labcorp Genetics (formerly Invitae), Labcorp 0 25 0 6 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 3 0 3 0 0 1 4
OMIM 0 19 0 4 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 10 0 3 0 0 0 3
Genome-Nilou Lab 0 19 0 3 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 6 0 3 0 0 0 3
Illumina Laboratory Services, Illumina 0 1 0 1 0 0 1 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 2 0 0 0 2
Natera, Inc. 0 5 0 2 0 0 0 2
Revvity Omics, Revvity 0 7 0 2 0 0 0 2
Baylor Genetics 0 9 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 1 0 0 0 1
IIFP, CONICET-UNLP 0 5 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 0 0 1 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 0 1 0 0 0 1
Paris Brain Institute, Inserm - ICM 0 1 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 5 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 9 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) rs527421775 0.00024
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter) rs200565348 0.00001
NM_001080477.4(TENM3):c.7687C>T (p.Arg2563Trp) rs755000701 0.00001
NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter) rs1057519324 0.00001
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr) rs606231471 0.00001
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His) rs977038830 0.00001
NM_005957.5(MTHFR):c.584C>T (p.Ala195Val) rs760161369 0.00001
NM_024649.5(BBS1):c.48-2A>C rs764245266 0.00001
NM_025233.7(COASY):c.1486-3C>G rs577714887 0.00001
NM_000094.4(COL7A1):c.682+5G>A rs767647070
NM_000202.8(IDS):c.1006+1G>A rs869025308
NM_000202.8(IDS):c.1047C>A (p.Ser349Arg) rs375836575
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del) rs2089505317
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1272del (p.Pro425fs) rs2123994828
NM_000202.8(IDS):c.1316del (p.Leu439fs) rs2123994709
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr) rs2089504816
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter) rs199422230
NM_000202.8(IDS):c.1470T>G (p.Tyr490Ter) rs2123994176
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter) rs2089304408
NM_000202.8(IDS):c.1505G>A (p.Trp502Ter) rs199422228
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.252C>G (p.Cys84Trp) rs1557340286
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.601_602del (p.Ser201fs) rs2124046861
NM_000202.8(IDS):c.683C>T (p.Pro228Leu) rs113993945
NM_000202.8(IDS):c.692C>G (p.Pro231Arg) rs2089450305
NM_000202.8(IDS):c.709-1G>A rs2089438403
NM_000202.8(IDS):c.908C>T (p.Ser303Phe) rs2124020665
NM_000202.8(IDS):c.923A>G (p.Asp308Gly) rs2124020552
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_001080477.4(TENM3):c.4046C>G (p.Ala1349Gly) rs1243762658
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_003361.4(UMOD):c.949T>G (p.Cys317Gly) rs1555487316
NM_003560.4(PLA2G6):c.196_197del (p.Gln66fs) rs762458355
NM_004273.5(CHST3):c.533dup (p.Ala179fs) rs769540174
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter) rs367752391
NM_022356.4(P3H1):c.1915-1G>A rs2124077667
NM_022356.4(P3H1):c.572del (p.Gly191fs) rs1652768821
NM_024306.5(FA2H):c.363+2T>C rs2544344603
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu) rs372350326
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133

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