ClinVar Genomic variation as it relates to human health
NC_000002.12:g.(?_44280696)_(44346410_?)del
Germline
Classification
(2)
Pathogenic/Likely pathogenic
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 | |||
PREPL | - | - |
GRCh38 GRCh37 |
619 | 804 | |
SLC3A1 | - | - |
GRCh38 GRCh37 |
335 | 520 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 28, 2017 | RCV000630481.3 | |
Pathogenic (1) |
|
Oct 6, 2020 | RCV001390053.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024