NM_000104.4(CYP1B1):c.319C>G (p.Leu107Val) AND Congenital glaucoma
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003758727.2
Allele description [Variation Report for NM_000104.4(CYP1B1):c.319C>G (p.Leu107Val)]
NM_000104.4(CYP1B1):c.319C>G (p.Leu107Val)
Condition(s)
- Name:
- Congenital glaucoma
- Identifiers:
- MONDO: MONDO:0020366; MedGen: C0020302
Assertion and evidence details
Last Updated: Oct 13, 2024