NM_000466.3(PEX1):c.2784-1G>C AND Zellweger spectrum disorders
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002996430.3
Allele description [Variation Report for NM_000466.3(PEX1):c.2784-1G>C]
NM_000466.3(PEX1):c.2784-1G>C
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024