NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr) AND Joubert syndrome 17
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- May 31, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000034938.10
Allele description [Variation Report for NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr)]
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr)
Condition(s)
Assertion and evidence details
Last Updated: Aug 11, 2024