NM_020964.3(EPG5):c.6680T>A (p.Leu2227Gln) AND Vici syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001878036.5
Allele description [Variation Report for NM_020964.3(EPG5):c.6680T>A (p.Leu2227Gln)]
NM_020964.3(EPG5):c.6680T>A (p.Leu2227Gln)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024