NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003317069.1
Allele description [Variation Report for NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly)]
NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly)
Condition(s)
Assertion and evidence details
Last Updated: Jun 17, 2024