ClinVar Genomic variation as it relates to human health
NM_001110354.2(ZP3):c.13T>G (p.Tyr5Asp)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
criteria provided, conflicting classifications
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 | |||
ZP3 | - | - |
GRCh38 GRCh37 |
64 | 110 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
ZP3-related disorder
|
Likely benign (1) |
|
Jun 27, 2019 | RCV003936672.1 |
Uncertain significance (1) |
|
Aug 30, 2022 | RCV004195780.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 25, 2024