NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) AND Retinitis pigmentosa 39
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003453722.3
Allele description [Variation Report for NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)]
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024