NM_020964.3(EPG5):c.3614del (p.Leu1205fs) AND Vici syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 17, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000691082.6
Allele description [Variation Report for NM_020964.3(EPG5):c.3614del (p.Leu1205fs)]
NM_020964.3(EPG5):c.3614del (p.Leu1205fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024