ClinVar Miner

Variants from Precision Medicine Center,Zhengzhou University with conflicting interpretations

Location: unspecified — Primary collection method: research
Minimum review status of the submission from Precision Medicine Center,Zhengzhou University: Collection method of the submission from Precision Medicine Center,Zhengzhou 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
87 3 1 7 1 1 7 17

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
Precision Medicine Center,Zhengzhou University pathogenic likely pathogenic uncertain significance benign affects
pathogenic 1 1 0 0 1
likely pathogenic 6 0 1 0 0
uncertain significance 2 5 0 1 0

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
Research and Development, ARUP Laboratories 0 2 1 3 0 0 1 5
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 3 4
OMIM 0 0 0 2 0 0 1 3
Counsyl 0 0 0 0 0 0 3 3
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 0 0 1 1
GeneReviews 0 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 1 0 0 0 1
Genetic Diagnostic Laboratory,University of Szeged 0 0 0 0 0 0 1 1
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) rs121918399
NM_000091.4(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.4(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590
NM_000278.3(PAX2):c.221_226dupAGACCG (p.Thr75_Gly76insGluThr) rs387906530
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427
NM_000495.5(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_004621.6(TRPC6):c.172C>T (p.Arg58Trp) rs117273916
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_015231.2(NUP160):c.2407G>A (p.Glu803Lys) rs775637217
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln) rs1057519347
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn)
NM_024876.4(COQ8B):c.748G>C (p.Asp250His)
NM_033380.3(COL4A5):c.1033-6A>G rs869025330
NM_033380.3(COL4A5):c.2237G>A (p.Gly746Glu) rs867625069
NM_033380.3(COL4A5):c.2597G>A (p.Gly866Glu) rs104886188
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) rs104886251
NM_033380.3(COL4A5):c.687+1G>A rs104886440

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