NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000390174.1
Allele description
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Identifiers:
- MONDO: MONDO:0005045; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
Assertion and evidence details
Last Updated: May 31, 2020