ClinVar Genomic variation as it relates to human health
NM_019112.4(ABCA7):c.2928C>T (p.Arg976=)
Germline
Classification
(1)
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 | |||
ABCA7 | - | - |
GRCh38 GRCh37 |
292 | 337 | |
LOC129391017 | - | - | - | GRCh38 | - | 13 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
ABCA7-related disorder
|
Likely benign (1) |
|
May 1, 2019 | RCV003917013.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024