NM_000466.3(PEX1):c.358-2A>C AND Peroxisome biogenesis disorder 1A (Zellweger)
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 19, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000670124.1
Allele description [Variation Report for NM_000466.3(PEX1):c.358-2A>C]
NM_000466.3(PEX1):c.358-2A>C
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024