NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002497489.1
Allele description [Variation Report for NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)]
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024