NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 3, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000552528.2
Assertion and evidence details
Last Updated: Apr 13, 2021