NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) AND Hearing impairment
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001375443.3
Allele description [Variation Report for NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)]
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)
Condition(s)
- Name:
- Hearing impairment
- Identifiers:
- MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365
Assertion and evidence details
Last Updated: Sep 29, 2024