NM_000321.3(RB1):c.1567_1568dup (p.Leu523fs) AND Retinoblastoma
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 2, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001067330.6
Allele description [Variation Report for NM_000321.3(RB1):c.1567_1568dup (p.Leu523fs)]
NM_000321.3(RB1):c.1567_1568dup (p.Leu523fs)
Condition(s)
- Name:
- Retinoblastoma (RB1)
- Synonyms:
- Eye cancer, retinoblastoma; RETINOBLASTOMA, SOMATIC
- Identifiers:
- MONDO: MONDO:0008380; MeSH: D012175; MedGen: C0035335; Orphanet: 790; OMIM: 180200; Human Phenotype Ontology: HP:0009919
Assertion and evidence details
Last Updated: Sep 29, 2024