NM_004333.6(BRAF):c.755G>A (p.Arg252Gln) AND RASopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 30, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001991277.6
Allele description [Variation Report for NM_004333.6(BRAF):c.755G>A (p.Arg252Gln)]
NM_004333.6(BRAF):c.755G>A (p.Arg252Gln)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
Assertion and evidence details
Last Updated: Sep 29, 2024