NM_002755.4(MAP2K1):c.280A>G (p.Met94Val) AND RASopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003655397.1
Allele description
NM_002755.4(MAP2K1):c.280A>G (p.Met94Val)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
Assertion and evidence details
Last Updated: May 1, 2024