NM_000466.3(PEX1):c.642A>C (p.Gln214His) AND Zellweger spectrum disorders
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jul 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001231108.4
Allele description [Variation Report for NM_000466.3(PEX1):c.642A>C (p.Gln214His)]
NM_000466.3(PEX1):c.642A>C (p.Gln214His)
Condition(s)
Assertion and evidence details
Last Updated: Feb 7, 2023