NM_001371596.2(MFSD8):c.1251C>T (p.Ala417=) AND Neuronal ceroid lipofuscinosis 7
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001429403.7
Allele description [Variation Report for NM_001371596.2(MFSD8):c.1251C>T (p.Ala417=)]
NM_001371596.2(MFSD8):c.1251C>T (p.Ala417=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024