NM_002474.3(MYH11):c.5454G>A (p.Ala1818=) AND Aortic aneurysm, familial thoracic 4
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000870698.22
Allele description [Variation Report for NM_002474.3(MYH11):c.5454G>A (p.Ala1818=)]
NM_002474.3(MYH11):c.5454G>A (p.Ala1818=)
Condition(s)
Assertion and evidence details
Last Updated: Jun 9, 2024