ClinVar Genomic variation as it relates to human health
NM_002880.4(RAF1):c.1850A>T (p.Asn617Ile)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(2)
Likely pathogenic(1); Uncertain significance(2)
criteria provided, conflicting classifications
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 | |||
RAF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1069 | 1123 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 27, 2022 | RCV002413000.2 | |
Likely pathogenic (1) |
|
Jun 10, 2022 | RCV002466757.1 | |
Uncertain significance (1) |
|
Jul 26, 2019 | RCV003985107.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024