NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val) AND Retinitis pigmentosa
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 9, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001199800.2
Allele description [Variation Report for NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val)]
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024