NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Sep 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000702360.8
Allele description [Variation Report for NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)]
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)
Condition(s)
Assertion and evidence details
Last Updated: Oct 20, 2024