NM_000117.3(EMD):c.19C>T (p.Leu7Phe) AND Dilated cardiomyopathy 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 21, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001256947.2
Allele description [Variation Report for NM_000117.3(EMD):c.19C>T (p.Leu7Phe)]
NM_000117.3(EMD):c.19C>T (p.Leu7Phe)
Condition(s)
- Name:
- Dilated cardiomyopathy 1A (CMD1A)
- Synonyms:
- CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Idiopathic dilated cardiomyopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007269; MedGen: C1449563; Orphanet: 300751; OMIM: 115200
Assertion and evidence details
Last Updated: Jun 24, 2023