ClinVar Genomic variation as it relates to human health
NM_003172.4(SURF1):c.168G>A (p.Ala56=)
Germline
Classification
(2)
Likely benign
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 |
633 | - |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 21, 2023 | RCV002610106.2 | |
Likely benign (1) |
|
Feb 7, 2020 | RCV003953907.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024