NM_001371596.2(MFSD8):c.1557A>C (p.Ter519Tyr) AND Neuronal ceroid lipofuscinosis 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 11, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001904403.5
Allele description [Variation Report for NM_001371596.2(MFSD8):c.1557A>C (p.Ter519Tyr)]
NM_001371596.2(MFSD8):c.1557A>C (p.Ter519Tyr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024