ClinVar Genomic variation as it relates to human health
NM_147128.4(ZNRF2):c.201G>C (p.Ala67=)
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 | |||
LOC105375218 | - | - | - | GRCh38 | - | 18 |
LOC129998187 | - | - | - | GRCh38 | - | 7 |
ZNRF2 | - | - |
GRCh38 GRCh37 |
3 | 45 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Oct 1, 2023 | RCV003436697.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024