ClinVar Genomic variation as it relates to human health
NM_001271675.2(ZC3H11C):c.2352C>A (p.Gly784=)
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 | |||
EYS | - | - |
GRCh38 GRCh37 |
4129 | 4683 | |
ZC3H11C | - | - | - | GRCh38 | - | 8 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 1, 2022 | RCV003431899.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024