NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr) AND Aortic valve disease 2
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000550166.12
Allele description [Variation Report for NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr)]
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr)
Condition(s)
Assertion and evidence details
Last Updated: Mar 30, 2024