NM_022336.4(EDAR):c.*1678C>T AND Hypohidrotic ectodermal dysplasia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001130145.4
Allele description [Variation Report for NM_022336.4(EDAR):c.*1678C>T]
NM_022336.4(EDAR):c.*1678C>T
Condition(s)
- Name:
- Hypohidrotic ectodermal dysplasia (HED)
- Identifiers:
- MONDO: MONDO:0016535; MedGen: C5848103; Orphanet: 238468; Human Phenotype Ontology: HP:0007607
Assertion and evidence details
Last Updated: Jun 29, 2024