NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp) AND multiple conditions
- Germline classification:
- Likely 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:
- RCV002479325.1
Allele description [Variation Report for NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp)]
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024