NM_001243279.3(ACSF3):c.1491del (p.Ser498fs) AND Combined malonic and methylmalonic acidemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002839225.2
Allele description [Variation Report for NM_001243279.3(ACSF3):c.1491del (p.Ser498fs)]
NM_001243279.3(ACSF3):c.1491del (p.Ser498fs)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024