NM_005585.5(SMAD6):c.1078C>G (p.Leu360Val) AND Aortic valve disease 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003649050.2
Allele description [Variation Report for NM_005585.5(SMAD6):c.1078C>G (p.Leu360Val)]
NM_005585.5(SMAD6):c.1078C>G (p.Leu360Val)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024