NM_002601.4(PDE6D):c.67C>A (p.Arg23=) AND Joubert syndrome 22
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003583236.1
Allele description [Variation Report for NM_002601.4(PDE6D):c.67C>A (p.Arg23=)]
NM_002601.4(PDE6D):c.67C>A (p.Arg23=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024