NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) AND Cardiomyopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003149624.9
Allele description [Variation Report for NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)]
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
Assertion and evidence details
Last Updated: May 1, 2024