ClinVar Genomic variation as it relates to human health
NM_003159.3(CDKL5):c.2972A>G (p.Gln991Arg)
Germline
Classification
(1)
Likely benign
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 | |||
CDKL5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1262 | 2030 | |
RS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
124 | 877 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
May 8, 2024 | RCV004612316.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 30, 2024