NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Nov 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001222663.8
Allele description [Variation Report for NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)]
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)
Condition(s)
Assertion and evidence details
Last Updated: Jun 17, 2024