ClinVar Genomic variation as it relates to human health
NM_003179.3(SYP):c.456G>A (p.Met152Ile)
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 | |||
SYP | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
49 | 228 | |
LOC119407421 | - | - | - | GRCh38 | - | 83 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 16, 2023 | RCV003480407.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 06, 2024