NM_000466.3(PEX1):c.934A>G (p.Ile312Val) AND Zellweger spectrum disorders
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001420988.9
Allele description [Variation Report for NM_000466.3(PEX1):c.934A>G (p.Ile312Val)]
NM_000466.3(PEX1):c.934A>G (p.Ile312Val)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024