NM_001243279.3(ACSF3):c.1501+1G>T AND Combined malonic and methylmalonic acidemia
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Feb 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002580689.4
Allele description [Variation Report for NM_001243279.3(ACSF3):c.1501+1G>T]
NM_001243279.3(ACSF3):c.1501+1G>T
Condition(s)
-
essv7841360 (1)
dbVar
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Last Updated: Jun 17, 2024