NM_020533.3(MCOLN1):c.*180T>C AND Mucolipidosis type IV
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001135691.4
Allele description [Variation Report for NM_020533.3(MCOLN1):c.*180T>C]
NM_020533.3(MCOLN1):c.*180T>C
Condition(s)
Assertion and evidence details
Last Updated: Apr 9, 2023