NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) AND Cardiomyopathy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- May 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003150043.9
Allele description [Variation Report for NM_001267550.2(TTN):c.6668A>T (p.His2223Leu)]
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
Assertion and evidence details
Last Updated: Nov 24, 2024