NM_003664.5(AP3B1):c.2734C>A (p.Arg912=) AND Hermansky-Pudlak syndrome 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003616286.1
Assertion and evidence details
Last Updated: Feb 28, 2024