NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser) AND Retinitis pigmentosa 13
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 14, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004527416.2
Allele description [Variation Report for NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser)]
NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024