NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs) AND Neuronal ceroid lipofuscinosis 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 14, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000668227.1
Allele description [Variation Report for NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs)]
NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs)
Condition(s)
Assertion and evidence details
Last Updated: Feb 4, 2024