ClinVar Genomic variation as it relates to human health
NM_001100913.3(PACS2):c.1049C>T (p.Pro350Leu)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(1); Benign(1); Likely benign(1)
Uncertain significance(1); Benign(1); Likely benign(1)
criteria provided, conflicting classifications
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 | |||
PACS2 | - | - |
GRCh38 GRCh37 |
952 | 1099 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 22, 2021 | RCV002287723.1 | |
Benign/Likely benign (2) |
|
Jan 7, 2024 | RCV003097726.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024