NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter) AND Usher syndrome type 2A
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003453280.1
Allele description [Variation Report for NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)]
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024