NM_001029883.3(PCARE):c.1541del (p.Pro514fs) AND Retinitis pigmentosa 54
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 10, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001283800.2
Allele description [Variation Report for NM_001029883.3(PCARE):c.1541del (p.Pro514fs)]
NM_001029883.3(PCARE):c.1541del (p.Pro514fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024