ClinVar Miner

Variants from Kasturba Medical College, Manipal University with conflicting interpretations

Location: India — Primary collection method: clinical testing
Minimum review status of the submission from Kasturba Medical College, Manipal University: Collection method of the submission from Kasturba Medical College, Manipal University:
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
81 9 1 10 1 0 4 14

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
Kasturba Medical College, Manipal University pathogenic likely pathogenic uncertain significance benign
pathogenic 1 6 1 0
likely pathogenic 4 0 1 0
uncertain significance 2 0 0 1

Submitter to submitter summary #

Total submitters: 14
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
OMIM 0 6 0 3 0 0 2 5
Invitae 0 4 0 1 0 0 1 2
Genetic Services Laboratory, University of Chicago 0 1 0 1 0 0 0 1
Counsyl 0 1 0 0 0 0 1 1
Natera, Inc. 0 2 0 1 0 0 0 1
GeneReviews 0 1 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 2 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 1 0 0 1
University Children's Hospital, University of Zurich 0 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 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 1 0 1 0 0 0 1
Myriad Women's Health, Inc. 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000316.3(PTH1R):c.103G>A (p.Glu35Lys) rs1559532562
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_001031710.3(KLHL7):c.178GTT[1] (p.Val61del) rs1554286093
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter) rs768126403
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405
NM_003359.4(UGDH):c.131C>T (p.Ala44Val) rs749975104
NM_005957.5(MTHFR):c.202C>G rs763539350
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232
NM_032193.4(RNASEH2C):c.205C>T rs78635798
NM_139202.3(MLC1):c.135dupC rs80358241
NM_153033.5(KCTD7):c.280C>T rs387907260

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