NM_000268.4(NF2):c.1701C>G (p.Asp567Glu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000765631.2
Allele description [Variation Report for NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)]
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)
Condition(s)
- Name:
- Familial meningioma
- Synonyms:
- Meningioma, familial, susceptibility to
- Identifiers:
- MONDO: MONDO:0011789; MedGen: C3551915; Orphanet: 263662; OMIM: 607174
Assertion and evidence details
Last Updated: May 16, 2025