NM_016122.3(CEP83):c.584G>T (p.Arg195Leu) AND Nephronophthisis 18
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001366477.4
Allele description [Variation Report for NM_016122.3(CEP83):c.584G>T (p.Arg195Leu)]
NM_016122.3(CEP83):c.584G>T (p.Arg195Leu)
Condition(s)
Assertion and evidence details
Last Updated: Feb 14, 2024