ClinVar Genomic variation as it relates to human health
NM_153240.5(NPHP3):c.69del (p.Gly24fs)
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
LOC129937586 | - | - | - | GRCh38 | - | 98 |
NPHP3 | - | - |
GRCh38 GRCh37 |
5 | 1174 | |
NPHP3-ACAD11 | - | - | - | GRCh38 | - | 1426 |
NPHP3-AS1 | - | - | - | GRCh38 | - | 160 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 16, 2021 | RCV002285076.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023