ClinVar Miner

Variants from GenomeConnect - Simons Searchlight with conflicting interpretations

Location: United States — Primary collection method: provider interpretation
Minimum review status of the submission from GenomeConnect - Simons Searchlight: Collection method of the submission from GenomeConnect - Simons Searchlight:
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
332 31 0 14 0 0 4 18

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
GenomeConnect - Simons Searchlight pathogenic likely pathogenic uncertain significance
pathogenic 0 6 3
likely pathogenic 8 0 1

Submitter to submitter summary #

Total submitters: 16
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
Baylor Genetics 0 6 0 2 0 0 1 3
Institute of Human Genetics, University of Leipzig Medical Center 0 5 0 1 0 0 2 3
OMIM 0 15 0 2 0 0 0 2
GeneReviews 0 4 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 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 1 0 0 0 0 1 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter) rs886056775
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) rs1064796453
NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys) rs863225081
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719
NM_015335.4(MED13L):c.5588+1G>A rs1135401810
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter) rs1060499602
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs) rs1599563995
NM_030632.3(ASXL3):c.3039+1G>A rs1555743003
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter) rs868044680
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030632.3(ASXL3):c.4462_4465del (p.Thr1488fs) rs1599574018
NM_032436.4(CHAMP1):c.1680_1683dup (p.Glu562delinsProTer) rs1594131663
NM_032436.4(CHAMP1):c.2127T>G (p.Tyr709Ter) rs1555379968
NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu) rs1064795110
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840

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