NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter) AND Retinitis pigmentosa 39
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004569425.1
Allele description [Variation Report for NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter)]
NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024