NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003117472.2
Allele description [Variation Report for NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)]
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024