ClinVar Genomic variation as it relates to human health
NM_018684.4(ZC4H2):c.210C>T (p.His70=)
Germline
Classification
(2)
Benign/Likely benign
criteria provided, multiple submitters, no conflicts
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 | |||
ZC4H2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
170 | 300 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Mar 10, 2018 | RCV002424371.2 | |
Benign (1) |
|
Jan 19, 2024 | RCV003098622.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024