NM_003664.5(AP3B1):c.128+4A>G AND Hermansky-Pudlak syndrome 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003878774.1
Allele description [Variation Report for NM_003664.5(AP3B1):c.128+4A>G]
NM_003664.5(AP3B1):c.128+4A>G
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024