NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg) AND Usher syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003226842.1
Allele description [Variation Report for NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)]
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024