NM_053025.4(MYLK):c.248G>A (p.Cys83Tyr) AND Aortic aneurysm, familial thoracic 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002026074.5
Allele description [Variation Report for NM_053025.4(MYLK):c.248G>A (p.Cys83Tyr)]
NM_053025.4(MYLK):c.248G>A (p.Cys83Tyr)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024