NM_020533.3(MCOLN1):c.585G>A (p.Val195=) AND Mucolipidosis type IV
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 19, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001438328.6
Allele description [Variation Report for NM_020533.3(MCOLN1):c.585G>A (p.Val195=)]
NM_020533.3(MCOLN1):c.585G>A (p.Val195=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024