NM_000258.3(MYL3):c.426G>A (p.Lys142=) AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Nov 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001483806.7
Allele description [Variation Report for NM_000258.3(MYL3):c.426G>A (p.Lys142=)]
NM_000258.3(MYL3):c.426G>A (p.Lys142=)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
Assertion and evidence details
Last Updated: May 7, 2024