ClinVar Genomic variation as it relates to human health
NM_007074.4(CORO1A):c.255A>T (p.Leu85=)
Germline
Classification
(2)
Likely benign
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 | |||
CORO1A | - | - |
GRCh38 GRCh37 |
241 | 473 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 12, 2023 | RCV002605939.3 | |
CORO1A-related disorder
|
Likely benign (1) |
|
May 17, 2022 | RCV003898839.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024