ClinVar Genomic variation as it relates to human health
NM_001316352.2(PTH):c.-5G>A
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 | |||
LOC107988023 | - | - | - | GRCh38 | - | 5 |
PTH | - | - |
GRCh38 GRCh37 |
35 | 52 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
PTH-related disorder
|
Likely benign (1) |
|
Dec 20, 2021 | RCV003899154.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024