ClinVar Genomic variation as it relates to human health
NM_003172.4(SURF1):c.870del (p.Phe290fs)
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 | |||
SURF1 | - | - |
GRCh38 GRCh38 GRCh37 |
645 | 740 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 16, 2023 | RCV003511208.2 | |
Likely pathogenic (1) |
|
Mar 1, 2024 | RCV003886629.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024