NM_020964.3(EPG5):c.5660_5664del (p.Asp1887fs) AND Vici syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003655725.2
Allele description [Variation Report for NM_020964.3(EPG5):c.5660_5664del (p.Asp1887fs)]
NM_020964.3(EPG5):c.5660_5664del (p.Asp1887fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024