ClinVar Genomic variation as it relates to human health
NM_016955.4(SEPSECS):c.114+3A>G
Germline
Classification
(5)
Pathogenic/Likely pathogenic
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 | |||
LOC129992330 | - | - | - | GRCh38 | - | 38 |
SEPSECS | - | - |
GRCh38 GRCh37 |
545 | 609 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic/Likely pathogenic (2) |
|
Jan 13, 2024 | RCV001281617.13 | |
Uncertain significance (1) |
|
Aug 14, 2020 | RCV001264723.8 | |
Likely pathogenic (1) |
|
Jul 25, 2023 | RCV003323838.8 | |
Pathogenic (1) |
|
Apr 27, 2023 | RCV003387987.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024