NM_020964.3(EPG5):c.6299T>G (p.Val2100Gly) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004036243.1
Allele description [Variation Report for NM_020964.3(EPG5):c.6299T>G (p.Val2100Gly)]
NM_020964.3(EPG5):c.6299T>G (p.Val2100Gly)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Sep 29, 2024