NM_001371596.2(MFSD8):c.18C>G (p.Asn6Lys) AND Neuronal ceroid lipofuscinosis 7
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- May 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000684990.8
Allele description [Variation Report for NM_001371596.2(MFSD8):c.18C>G (p.Asn6Lys)]
NM_001371596.2(MFSD8):c.18C>G (p.Asn6Lys)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024