NM_001384140.1(PCDH15):c.4367+1G>A AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002505994.1
Allele description [Variation Report for NM_001384140.1(PCDH15):c.4367+1G>A]
NM_001384140.1(PCDH15):c.4367+1G>A
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: Jun 10, 2023