NM_032122.5(DTNBP1):c.1019_1020del (p.Glu340fs) AND Hermansky-Pudlak syndrome 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 11, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000778783.7
Allele description [Variation Report for NM_032122.5(DTNBP1):c.1019_1020del (p.Glu340fs)]
NM_032122.5(DTNBP1):c.1019_1020del (p.Glu340fs)
Condition(s)
Assertion and evidence details
Last Updated: Aug 25, 2024