NM_020964.3(EPG5):c.263T>G (p.Leu88Ter) AND Vici syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001383670.6
Allele description [Variation Report for NM_020964.3(EPG5):c.263T>G (p.Leu88Ter)]
NM_020964.3(EPG5):c.263T>G (p.Leu88Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024