NM_001371596.2(MFSD8):c.1208T>C (p.Ile403Thr) AND Neuronal ceroid lipofuscinosis 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002971216.2
Allele description [Variation Report for NM_001371596.2(MFSD8):c.1208T>C (p.Ile403Thr)]
NM_001371596.2(MFSD8):c.1208T>C (p.Ile403Thr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024