NM_000391.4(TPP1):c.184_185del (p.Ser62fs) AND Neuronal ceroid lipofuscinosis 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 19, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000667218.1
Allele description [Variation Report for NM_000391.4(TPP1):c.184_185del (p.Ser62fs)]
NM_000391.4(TPP1):c.184_185del (p.Ser62fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024