NM_020964.3(EPG5):c.5938G>T (p.Glu1980Ter) AND Vici syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000705880.5
Allele description [Variation Report for NM_020964.3(EPG5):c.5938G>T (p.Glu1980Ter)]
NM_020964.3(EPG5):c.5938G>T (p.Glu1980Ter)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024