NM_003664.5(AP3B1):c.648G>A (p.Pro216=) AND Hermansky-Pudlak syndrome 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000934175.8
Allele description [Variation Report for NM_003664.5(AP3B1):c.648G>A (p.Pro216=)]
NM_003664.5(AP3B1):c.648G>A (p.Pro216=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024