ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and NIHR Bioresource Rare Diseases,University of Cambridge

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
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
0 0 0 2 0 0 5 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.

likely pathogenic uncertain significance likely benign
pathogenic 1 1 0
uncertain significance 1 0 0
likely benign 3 0 0
benign 0 0 1

All variants with conflicting interpretations #

Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_000350.2(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_002473.5(MYH9):c.122T>C (p.Phe41Ser) rs1057520107
NM_024649.4(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_032119.3(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_152384.2(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152419.2(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_206933.2(USH2A):c.1256G>T (p.Cys419Phe) rs121912600

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