NM_005585.5(SMAD6):c.1029G>T (p.Val343=) AND Aortic valve disease 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001494217.6
Allele description [Variation Report for NM_005585.5(SMAD6):c.1029G>T (p.Val343=)]
NM_005585.5(SMAD6):c.1029G>T (p.Val343=)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024