ClinVar Genomic variation as it relates to human health
NM_004036.5(ADCY3):c.3414_*3dup (p.His1138_Ter1145=)
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 | |||
ADCY3 | - | - |
GRCh38 GRCh37 |
215 | 276 | |
CENPO | - | - |
GRCh38 GRCh37 |
16 | 77 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
ADCY3-related disorder
|
Uncertain significance (1) |
|
Nov 13, 2023 | RCV003924775.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024