NM_000260.4(MYO7A):c.1344-2A>G AND Ear malformation
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001814023.2
Allele description [Variation Report for NM_000260.4(MYO7A):c.1344-2A>G]
NM_000260.4(MYO7A):c.1344-2A>G
Condition(s)
- Name:
- Ear malformation
- Synonyms:
- CUP EAR; Abnormality of the ear
- Identifiers:
- MONDO: MONDO:0007500; MedGen: C0266589; OMIM: 128600; Human Phenotype Ontology: HP:0000598
Assertion and evidence details
Last Updated: Jul 15, 2024