ClinVar Genomic variation as it relates to human health
NM_003919.3(SGCE):c.1155A>G (p.Ser385=)
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 | |||
SGCE | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
67 | 661 | |
CASD1 | - | - |
GRCh38 GRCh37 |
33 | 629 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 2, 2024 | RCV003856519.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024