NM_006493.4(CLN5):c.745T>G (p.Phe249Val) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002995489.2
Allele description [Variation Report for NM_006493.4(CLN5):c.745T>G (p.Phe249Val)]
NM_006493.4(CLN5):c.745T>G (p.Phe249Val)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024