NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val) AND Dilated cardiomyopathy 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 28, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001256697.2
Allele description [Variation Report for NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val)]
NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val)
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: Aug 11, 2024