NM_000255.4(MMUT):c.191C>T (p.Pro64Leu) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 18, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626275.4
Allele description [Variation Report for NM_000255.4(MMUT):c.191C>T (p.Pro64Leu)]
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu)
Condition(s)
Assertion and evidence details
Last Updated: Jul 29, 2023