ClinVar Genomic variation as it relates to human health
NM_024675.4(PALB2):c.2834+2T>A
Germline
Classification
(3)
Likely pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
PALB2 | - | - |
GRCh38 GRCh37 |
5913 | 5955 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (2) |
|
Sep 13, 2023 | RCV003450451.2 | |
Likely pathogenic (1) |
|
Oct 11, 2023 | RCV004364752.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 08, 2024