NM_004821.3(HAND1):c.579A>C (p.Pro193=) AND Hypoplastic left heart syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002590643.4
Allele description [Variation Report for NM_004821.3(HAND1):c.579A>C (p.Pro193=)]
NM_004821.3(HAND1):c.579A>C (p.Pro193=)
Condition(s)
- Name:
- Hypoplastic left heart syndrome
- Synonyms:
- Hypoplastic left heart
- Identifiers:
- MONDO: MONDO:0004933; MedGen: C0152101; Orphanet: 2248; OMIM: PS241550; Human Phenotype Ontology: HP:0004383
Assertion and evidence details
Last Updated: Sep 29, 2024