NM_005159.5(ACTC1):c.699C>T (p.Ala233=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002218878.5
Allele description [Variation Report for NM_005159.5(ACTC1):c.699C>T (p.Ala233=)]
NM_005159.5(ACTC1):c.699C>T (p.Ala233=)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy 11
- Synonyms:
- Familial hypertrophic cardiomyopathy 11; ACTC1-Related Familial Hypertrophic Cardiomyopathy
- Identifiers:
- MONDO: MONDO:0012799; MedGen: C2677506; OMIM: 612098
Assertion and evidence details
Last Updated: Feb 28, 2024