NM_000501.4(ELN):c.6G>A (p.Ala2=) AND Supravalvar aortic stenosis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001392560.13
Allele description [Variation Report for NM_000501.4(ELN):c.6G>A (p.Ala2=)]
NM_000501.4(ELN):c.6G>A (p.Ala2=)
Condition(s)
- Name:
- Supravalvar aortic stenosis (SVAS)
- Synonyms:
- Supravalvar aortic stenosis, Eisenberg type
- Identifiers:
- MONDO: MONDO:0008504; MedGen: C0003499; Orphanet: 3193; OMIM: 185500; Human Phenotype Ontology: HP:0004381
Assertion and evidence details
Last Updated: May 19, 2024