NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) AND EPG5-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003918035.2
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)
- Name:
- EPG5-related disorder
- Synonyms:
- EPG5-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Oct 13, 2024