NM_001276345.2(TNNT2):c.352G>A (p.Ala118Thr) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002999960.2
Allele description [Variation Report for NM_001276345.2(TNNT2):c.352G>A (p.Ala118Thr)]
NM_001276345.2(TNNT2):c.352G>A (p.Ala118Thr)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy 2
- Synonyms:
- Familial hypertrophic cardiomyopathy 2; TNNT2-Related Familial Hypertrophic Cardiomyopathy
- Identifiers:
- MONDO: MONDO:0007266; MedGen: C1861864; OMIM: 115195
Assertion and evidence details
Last Updated: Feb 28, 2024