NM_020533.3(MCOLN1):c.228C>T (p.Val76=) AND Mucolipidosis type IV
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001491496.15
Allele description [Variation Report for NM_020533.3(MCOLN1):c.228C>T (p.Val76=)]
NM_020533.3(MCOLN1):c.228C>T (p.Val76=)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024