ClinVar Genomic variation as it relates to human health
NM_002843.4(PTPRJ):c.68TGC[7] (p.Leu28_Arg29insLeu)
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
LOC130005691 | - | - | - | GRCh38 | - | 8 |
PTPRJ | - | - |
GRCh38 GRCh37 |
110 | 144 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
PTPRJ-related disorder
|
Uncertain significance (1) |
|
Jul 2, 2023 | RCV003400491.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024