NM_000256.3(MYBPC3):c.927_928delGG AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000768467.2
Allele description [Variation Report for NM_000256.3(MYBPC3):c.927_928delGG]
NM_000256.3(MYBPC3):c.927_928delGG
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: Dec 11, 2022