NM_031443.4(CCM2):c.55C>T (p.Arg19Ter) AND CCM2-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003389649.4
Allele description [Variation Report for NM_031443.4(CCM2):c.55C>T (p.Arg19Ter)]
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter)
Condition(s)
- Name:
- CCM2-related disorder
- Synonyms:
- CCM2-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Sep 29, 2024