ClinVar Genomic variation as it relates to human health
NM_003995.4(NPR2):c.2778T>C (p.His926=)
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 | |||
NPR2 | - | - |
GRCh38 GRCh37 |
432 | 590 | |
SPAG8 | - | - |
GRCh38 GRCh37 |
42 | 200 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Apr 23, 2022 | RCV002999571.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024