NM_145046.5(CALR3):c.217C>T (p.Arg73Ter) AND Hypertrophic cardiomyopathy 19
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003527204.1
Allele description [Variation Report for NM_145046.5(CALR3):c.217C>T (p.Arg73Ter)]
NM_145046.5(CALR3):c.217C>T (p.Arg73Ter)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy 19
- Synonyms:
- Familial hypertrophic cardiomyopathy 19
- Identifiers:
- MONDO: MONDO:0013476; MedGen: CN077603
Assertion and evidence details
Last Updated: Feb 20, 2024