ClinVar Miner

Variants from Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital with conflicting interpretations

Location: China — Primary collection method: clinical testing
Minimum review status of the submission from Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital: Collection method of the submission from Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital:
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
84 2 0 3 0 0 4 5

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
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital pathogenic uncertain significance
likely pathogenic 3 4

Submitter to submitter summary #

Total submitters: 10
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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
Invitae 0 0 0 2 0 0 0 2
OMIM 0 0 0 1 0 0 0 1
Baylor Miraca Genetics Laboratories, 0 0 0 1 0 0 0 1
Ambry Genetics 0 0 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 0 0 1 1
Fulgent Genetics 0 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 1 1
Color 0 0 0 0 0 0 1 1
Undiagnosed Diseases Network,NIH 0 0 0 0 0 0 1 1
Department of Medical Sciences,Uppsala University 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 5
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HGVS dbSNP
NM_000089.3(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000455.4(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_004959.4(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_014251.2(SLC25A13):c.1505C>T (p.Pro502Leu) rs139149160
NM_176824.2(BBS7):c.1891-2A>C rs1057519027

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