NM_000363.5(TNNI3):c.108+2T>G AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003766205.1
Allele description [Variation Report for NM_000363.5(TNNI3):c.108+2T>G]
NM_000363.5(TNNI3):c.108+2T>G
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
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"Centre for Mendelian Genomics, University Medical Centre Ljublja... (1)
"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[submitter] AND "LOC126863239"[gene]SearchClinVar
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024