NM_031443.4(CCM2):c.55C>T (p.Arg19Ter) AND Cerebral cavernous malformation 2
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000644584.11
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)
Assertion and evidence details
Last Updated: Sep 29, 2024