NM_002294.3(LAMP2):c.*2148AT[8] 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:
- RCV000392846.5
Allele description [Variation Report for NM_002294.3(LAMP2):c.*2148AT[8]]
NM_002294.3(LAMP2):c.*2148AT[8]
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
Assertion and evidence details
Last Updated: Apr 9, 2023