NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) AND Usher syndrome type 2A
- Germline classification:
- Likely pathogenic (2 submissions)
- 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:
- RCV001273812.2
Allele description [Variation Report for NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)]
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024