ClinVar Genomic variation as it relates to human health
NM_017934.7(PHIP):c.2854C>T (p.Arg952Ter)
Germline
Classification
(2)
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 | |||
PHIP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
420 | 811 | |
IRAK1BP1 | - | - |
GRCh38 GRCh37 |
18 | 391 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV001257009.2 | |
Uncertain significance (1) |
|
Jan 20, 2022 | RCV002269353.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024