ClinVar Genomic variation as it relates to human health
NM_003172.4(SURF1):c.65del (p.Ser22fs)
Germline
Classification
(2)
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 | |||
LOC130002899 | - | - | - |
GRCh38 GRCh38 |
- | 69 |
SURF1 | - | - |
GRCh38 GRCh38 GRCh37 |
633 | 727 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jan 31, 2023 | RCV003110168.3 | |
Pathogenic (1) |
|
Jun 26, 2023 | RCV003619818.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024