NM_012388.4(BLOC1S6):c.213C>T (p.Leu71=) AND Hermansky-Pudlak syndrome 9
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003641586.1
Allele description [Variation Report for NM_012388.4(BLOC1S6):c.213C>T (p.Leu71=)]
NM_012388.4(BLOC1S6):c.213C>T (p.Leu71=)
Condition(s)
Assertion and evidence details
Last Updated: Aug 11, 2024