ClinVar Miner

Variants from Systems Biology Platform Zhejiang California International NanoSystems Institute with conflicting interpretations

Location: China — Primary collection method: not provided
Minimum review status of the submission from Systems Biology Platform Zhejiang California International NanoSystems Institute: Collection method of the submission from Systems Biology Platform Zhejiang California International NanoSystems Institute:
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 Variants with at least 2 submissions 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 kind of conflict
1001 0 0 0 0 23 0 23

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
Systems Biology Platform Zhejiang California International NanoSystems Institute pathogenic uncertain significance likely benign benign
other 1 4 2 17

Submitter to submitter summary #

Total submitters: 19
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 14 0 14
Color 0 0 0 0 0 11 0 11
Ambry Genetics 0 0 0 0 0 10 0 10
PreventionGenetics 0 0 0 0 0 10 0 10
Invitae 0 0 0 0 0 10 0 10
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 0 0 10 0 10
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 0 0 9 0 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 0 8 0 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 0 8 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 0 7 0 7
Counsyl 0 0 0 0 0 2 0 2
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 0 0 0 1 0 1
GeneDx 0 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 0 1 0 1
Fulgent Genetics 0 0 0 0 0 1 0 1
Pathway Genomics 0 0 0 0 0 1 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 0 1 0 1
True Health Diagnostics 0 0 0 0 0 1 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000038.5(APC):c.*1098T>C rs41116
NM_000038.5(APC):c.*1460C>T rs3733961
NM_000038.5(APC):c.*1556C>G rs448475
NM_000038.5(APC):c.*1753G>A rs397768
NM_000038.5(APC):c.*434C>T rs12189
NM_000038.5(APC):c.*86C>A rs1804197
NM_000038.5(APC):c.136-53T>C rs2304793
NM_000038.5(APC):c.1408+792A>T rs77551834
NM_000038.5(APC):c.1458T>C (p.Tyr486=) rs2229992
NM_000038.5(APC):c.1635G>A (p.Ala545=) rs351771
NM_000038.5(APC):c.190G>T (p.Gly64Ter) rs79323615
NM_000038.5(APC):c.1912A>G (p.Ile638Val) rs75117039
NM_000038.5(APC):c.1927T>C (p.Ser643Pro) rs78349383
NM_000038.5(APC):c.1958+8T>C rs62626346
NM_000038.5(APC):c.2385C>T (p.Leu795=) rs80188155
NM_000038.5(APC):c.423-16A>T rs78919815
NM_000038.5(APC):c.4479G>A (p.Thr1493=) rs41115
NM_000038.5(APC):c.5034G>A (p.Gly1678=) rs42427
NM_000038.5(APC):c.5268T>G (p.Ser1756=) rs866006
NM_000038.5(APC):c.5880G>A (p.Pro1960=) rs465899
NM_000038.5(APC):c.7049C>T (p.Ser2350Phe) rs75207119
NM_000038.5(APC):c.7513C>G (p.Arg2505Gly) rs79630786
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552

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