NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val) AND Joubert syndrome 17
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000361636.5
Allele description [Variation Report for NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val)]
NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024