ClinVar Genomic variation as it relates to human health
NM_033133.5(CNP):c.705G>C (p.Lys235Asn)
Germline
Classification
(2)
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 | |||
CNP | - | - |
GRCh38 GRCh37 |
35 | 47 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 1, 2022 | RCV003428276.10 | |
CNP-related disorder
|
Likely benign (1) |
|
May 18, 2022 | RCV003929087.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 20, 2024