NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002500547.1
Allele description [Variation Report for NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln)]
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln)
Condition(s)
- Name:
- Dilated cardiomyopathy 1AA (CMD1AA)
- Synonyms:
- CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
- Identifiers:
- MONDO: MONDO:0012808; MedGen: C2677338; Orphanet: 154; OMIM: 612158
Assertion and evidence details
Last Updated: Sep 29, 2024