NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys) AND Zellweger spectrum disorders
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001833775.1
Allele description [Variation Report for NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys)]
NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024