NM_002618.4(PEX13):c.893T>C (p.Met298Thr) AND Peroxisome biogenesis disorder 11A (Zellweger)
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000981678.14
Allele description [Variation Report for NM_002618.4(PEX13):c.893T>C (p.Met298Thr)]
NM_002618.4(PEX13):c.893T>C (p.Met298Thr)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024