NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002307331.2
Allele description [Variation Report for NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter)]
NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2022