NM_145046.5(CALR3):c.1095G>A (p.Ser365=) AND Hypertrophic cardiomyopathy 19
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002202199.5
Allele description [Variation Report for NM_145046.5(CALR3):c.1095G>A (p.Ser365=)]
NM_145046.5(CALR3):c.1095G>A (p.Ser365=)
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