NM_002880.4(RAF1):c.758A>C (p.Gln253Pro) AND RASopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002770081.3
Allele description [Variation Report for NM_002880.4(RAF1):c.758A>C (p.Gln253Pro)]
NM_002880.4(RAF1):c.758A>C (p.Gln253Pro)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
Assertion and evidence details
Last Updated: Sep 29, 2024