NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) AND CDH23-related disorder
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Feb 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004528196.1
Allele description [Variation Report for NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)]
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
Condition(s)
- Name:
- CDH23-related disorder
- Synonyms:
- CDH23-related condition; CDH23-Related Disorders
- Identifiers:
Assertion and evidence details
Last Updated: Sep 8, 2024