NM_001384732.1(CPLANE1):c.8887del (p.Ala2963fs) AND Joubert syndrome 17
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 23, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000201559.1
Allele description [Variation Report for NM_001384732.1(CPLANE1):c.8887del (p.Ala2963fs)]
NM_001384732.1(CPLANE1):c.8887del (p.Ala2963fs)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022