NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) AND Primary dilated cardiomyopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003993783.1
Allele description [Variation Report for NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)]
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)
Condition(s)
- Name:
- Primary dilated cardiomyopathy (DCM)
- Synonyms:
- Dilated Cardiomyopathy
- Identifiers:
- EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644
Assertion and evidence details
Last Updated: Sep 29, 2024