ClinVar Genomic variation as it relates to human health
NM_002294.3(LAMP2):c.9C>T (p.Cys3=)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(2)
Uncertain significance(1); Likely benign(2)
criteria provided, conflicting classifications
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 | |||
LAMP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
697 | 865 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 3, 2023 | RCV003384225.2 | |
Likely benign (1) |
|
Jan 5, 2023 | RCV003487068.1 | |
Likely benign (1) |
|
Dec 11, 2023 | RCV003621703.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024