NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs) AND Usher syndrome type 1D
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002307276.2
Allele description [Variation Report for NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs)]
NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2022