NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys) AND Joubert syndrome 9
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 25, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000985000.1
Allele description [Variation Report for NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys)]
NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022