ClinVar Genomic variation as it relates to human health
NM_006924.5(SRSF1):c.579dup (p.Val194fs)
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 | |||
LOC126862603 | - | - | - | GRCh38 | - | 11 |
SRSF1 | - | - |
GRCh38 GRCh37 |
11 | 34 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 15, 2023 | RCV003151463.4 | |
Pathogenic (1) |
|
Aug 29, 2023 | RCV003325248.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024