NM_000255.4(MMUT):c.280G>A (p.Gly94Arg) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- May 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001535925.14
Allele description [Variation Report for NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)]
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)
Condition(s)
Assertion and evidence details
Last Updated: Sep 16, 2024