NM_015506.3(MMACHC):c.75C>A (p.Pro25=) AND Methylmalonic acidemia with homocystinuria cblC
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001272217.1
Allele description [Variation Report for NM_015506.3(MMACHC):c.75C>A (p.Pro25=)]
NM_015506.3(MMACHC):c.75C>A (p.Pro25=)
Condition(s)
- Name:
- Methylmalonic acidemia with homocystinuria cblC
- Synonyms:
- Methylmalonic aciduria with homocystinuria cblC type
- Identifiers:
- MedGen: CN239025
Assertion and evidence details
Last Updated: Sep 29, 2024