ClinVar Miner

Variants from Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province with conflicting interpretations

Location: China  Primary collection method: clinical testing
Minimum review status of the submission from Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province: Collection method of the submission from Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province:
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
33 15 0 4 0 0 3 7

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
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province pathogenic likely pathogenic uncertain significance
pathogenic 0 2 1
likely pathogenic 2 0 2

Submitter to submitter summary #

Total submitters: 7
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
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
Invitae 0 4 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1 1
Genome-Nilou Lab 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.3850C>T (p.Arg1284Trp) rs886061315 0.00001
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs) rs1555195118
NM_017777.4(MKS1):c.1408-1dup rs762668200

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