NM_000272.3(NPHP1):c.625-3dup AND Nephronophthisis
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001521519.6
Allele description [Variation Report for NM_000272.3(NPHP1):c.625-3dup]
NM_000272.3(NPHP1):c.625-3dup
Condition(s)
- Name:
- Nephronophthisis
- Synonyms:
- juvenile nephronophthisis
- Identifiers:
- MONDO: MONDO:0019005; MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090
Assertion and evidence details
Last Updated: Oct 8, 2024