NM_006493.4(CLN5):c.207_213del (p.Pro68_Tyr69insTer) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001389542.4
Allele description [Variation Report for NM_006493.4(CLN5):c.207_213del (p.Pro68_Tyr69insTer)]
NM_006493.4(CLN5):c.207_213del (p.Pro68_Tyr69insTer)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024