NM_000016.6(ACADM):c.830_831dup (p.Asp278fs) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 11, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003465044.1
Allele description [Variation Report for NM_000016.6(ACADM):c.830_831dup (p.Asp278fs)]
NM_000016.6(ACADM):c.830_831dup (p.Asp278fs)
Condition(s)
Assertion and evidence details
Last Updated: Dec 30, 2023