NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser) AND Cardiomyopathy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Nov 7, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001798126.2
Allele description [Variation Report for NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser)]
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser)
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