ClinVar Genomic variation as it relates to human health
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg)
Germline
Classification
(2)
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 | |||
L1CAM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1235 | 1499 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 1, 2020 | RCV001270392.2 | |
Uncertain significance (1) |
|
Sep 22, 2022 | RCV002541647.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024