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:
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
66 14 1 7 0 7 2 16

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 1 1 1 6
likely pathogenic 6 0 1 1

Submitter to submitter summary #

Total submitters: 10
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
Pediatrics,All India Institute of Medical Sciences, New Delhi 0 0 0 0 0 7 0 7
OMIM 0 7 0 4 0 0 0 4
GeneReviews 0 4 1 1 0 0 0 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 1 0 0 0 0 2 2
Invitae 0 8 0 1 0 0 0 1
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 0 5 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 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
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000202.8(IDS):c.1006+1G>A
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del)
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.263G>A (p.Arg88His)
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.692C>G (p.Pro231Arg)
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_001080477.4(TENM3):c.4046C>G (p.Ala1349Gly) rs1243762658
NM_001080477.4(TENM3):c.7687C>T (p.Arg2563Trp) rs755000701
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr) rs606231471
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs) rs199422137
NM_025233.7(COASY):c.1486-3C>G rs577714887

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