NM_001029883.3(PCARE):c.2380dup (p.Met794fs) AND Retinitis pigmentosa 54
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001593171.2
Allele description [Variation Report for NM_001029883.3(PCARE):c.2380dup (p.Met794fs)]
NM_001029883.3(PCARE):c.2380dup (p.Met794fs)
Condition(s)
Assertion and evidence details
Last Updated: Aug 4, 2024