ClinVar Genomic variation as it relates to human health
NM_002332.3(LRP1):c.650C>T (p.Ala217Val)
Germline
Classification
(1)
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 | |||
LRP1 | - | - |
GRCh38 GRCh37 |
414 | 448 | |
LRP1-AS | - | - | - | GRCh38 | - | 17 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
LRP1-related disorder
|
Benign (1) |
|
Mar 27, 2019 | RCV003924523.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024