NM_003664.5(AP3B1):c.2078-11C>T AND Hermansky-Pudlak syndrome 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003617027.1
Allele description [Variation Report for NM_003664.5(AP3B1):c.2078-11C>T]
NM_003664.5(AP3B1):c.2078-11C>T
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024