NM_001351132.2(PEX5):c.1848G>A (p.Gln616=) AND Peroxisome biogenesis disorder 2B
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001403463.7
Allele description [Variation Report for NM_001351132.2(PEX5):c.1848G>A (p.Gln616=)]
NM_001351132.2(PEX5):c.1848G>A (p.Gln616=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024