ClinVar Genomic variation as it relates to human health
NM_005527.4(HSPA1L):c.220del (p.Arg74fs)
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 | |||
HSPA1L | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
67 | 79 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
HSPA1L-related disorder
|
Uncertain significance (1) |
|
Jan 24, 2024 | RCV003899335.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024