ClinVar Genomic variation as it relates to human health
NM_012247.5(SEPHS1):c.1111C>T (p.Arg371Trp)
Germline
Classification
(2)
Pathogenic
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 | |||
SEPHS1 | - | - |
GRCh38 GRCh37 |
19 | 43 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 24, 2022 | RCV003442917.2 | |
Uncertain significance (1) |
|
Dec 9, 2022 | RCV003992564.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024