NM_001103.4(ACTN2):c.1447T>A (p.Cys483Ser) AND Primary familial hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 20, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000624437.2
Allele description [Variation Report for NM_001103.4(ACTN2):c.1447T>A (p.Cys483Ser)]
NM_001103.4(ACTN2):c.1447T>A (p.Cys483Ser)
Condition(s)
Assertion and evidence details
Last Updated: Jun 24, 2023