NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) AND Vici syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000642217.16
Allele description [Variation Report for NM_020964.3(EPG5):c.7495A>G (p.Met2499Val)]
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024