NM_018941.4(CLN8):c.594del (p.His199fs) AND Neuronal ceroid lipofuscinosis 8
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000671057.1
Allele description [Variation Report for NM_018941.4(CLN8):c.594del (p.His199fs)]
NM_018941.4(CLN8):c.594del (p.His199fs)
Condition(s)
Assertion and evidence details
Last Updated: Mar 26, 2023