NM_000276.4(OCRL):c.577_578del (p.Glu193fs) AND Lowe syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003224765.1
Allele description
NM_000276.4(OCRL):c.577_578del (p.Glu193fs)
Condition(s)
Assertion and evidence details
Last Updated: Jan 13, 2025