NM_003664.5(AP3B1):c.1747C>G (p.Pro583Ala) AND Hermansky-Pudlak syndrome 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000818992.6
Allele description [Variation Report for NM_003664.5(AP3B1):c.1747C>G (p.Pro583Ala)]
NM_003664.5(AP3B1):c.1747C>G (p.Pro583Ala)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024