NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter) AND Neuronal ceroid lipofuscinosis 3
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Sep 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000169443.5
Allele description [Variation Report for NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)]
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024