ClinVar Miner

Variants from Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria with conflicting interpretations

Location: Spain  Primary collection method: clinical testing
Minimum review status of the submission from Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria: Collection method of the submission from Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria:
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
17 8 0 1 3 1 4 8

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
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 0 0 2 0 0
uncertain significance 1 1 0 2 1
likely risk allele 0 0 0 1 0

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
Invitae 0 6 0 0 2 1 3 6
Ambry Genetics 0 0 0 0 0 1 0 1
PreventionGenetics, part of Exact Sciences 0 0 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 0 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 1 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
NM_000492.4(CFTR):c.627A>G (p.Ala209=) rs397508773 0.00002
NM_198282.4(STING1):c.40A>C (p.Arg14=) rs761439213 0.00001
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr) rs1568810660
NM_001005242.3(PKP2):c.1709T>C (p.Leu570Pro)
NM_001042492.3(NF1):c.2325+3A>T

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