NM_000466.3(PEX1):c.716C>T (p.Ser239Leu) AND Zellweger spectrum disorders
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002705574.2
Allele description [Variation Report for NM_000466.3(PEX1):c.716C>T (p.Ser239Leu)]
NM_000466.3(PEX1):c.716C>T (p.Ser239Leu)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024