NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002505164.1
Allele description [Variation Report for NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del)]
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del)
Condition(s)
- Name:
- Autosomal recessive nonsyndromic hearing loss 23
- Synonyms:
- Deafness, autosomal recessive 23
- Identifiers:
- MONDO: MONDO:0012293; MedGen: C1836027; Orphanet: 90636; OMIM: 609533
Assertion and evidence details
Last Updated: May 12, 2024