ClinVar Genomic variation as it relates to human health
NM_001282531.3(ADNP):c.1108C>G (p.Leu370Val)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(2); Likely benign(1)
Uncertain significance(2); Likely benign(1)
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 | |||
ADNP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
678 | 695 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 26, 2018 | RCV002428659.2 | |
Likely benign (1) |
|
Aug 23, 2022 | RCV003102065.3 | |
Uncertain significance (1) |
|
Oct 30, 2023 | RCV003492768.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024