NM_001142966.3(GREB1L):c.2252G>A (p.Arg751His) AND Renal cortical hyperechogenicity
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001526584.2
Allele description [Variation Report for NM_001142966.3(GREB1L):c.2252G>A (p.Arg751His)]
NM_001142966.3(GREB1L):c.2252G>A (p.Arg751His)
Condition(s)
- Name:
- Renal cortical hyperechogenicity
- Identifiers:
- MedGen: C5421632; Human Phenotype Ontology: HP:0033132
Assertion and evidence details
Last Updated: May 7, 2024