NM_000466.3(PEX1):c.1494A>G (p.Glu498=) AND Zellweger spectrum disorders
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000943461.8
Allele description [Variation Report for NM_000466.3(PEX1):c.1494A>G (p.Glu498=)]
NM_000466.3(PEX1):c.1494A>G (p.Glu498=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024