NM_000318.3(PEX2):c.285T>C (p.Tyr95=) AND Peroxisome biogenesis disorder 5A (Zellweger)
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002155097.5
Allele description [Variation Report for NM_000318.3(PEX2):c.285T>C (p.Tyr95=)]
NM_000318.3(PEX2):c.285T>C (p.Tyr95=)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024