ClinVar Genomic variation as it relates to human health
NM_001201427.2(DAAM2):c.2095A>G (p.Ile699Val)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); 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 | |||
DAAM2 | - | - |
GRCh38 GRCh37 |
114 | 169 | |
LOC126859670 | - | - | - | GRCh38 | - | 7 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
DAAM2-related disorder
|
Likely benign (1) |
|
May 13, 2022 | RCV003951685.1 |
Uncertain significance (1) |
|
Dec 19, 2023 | RCV004369821.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024