ClinVar Genomic variation as it relates to human health
NM_014319.5(LEMD3):c.427G>A (p.Glu143Lys)
Germline
Classification
(1)
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 | |||
LEMD3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
548 | 637 | |
LOC130008224 | - | - | - | GRCh38 | - | 59 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 4, 2023 | RCV003543405.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024