NM_032380.5(GFM2):c.1615C>A (p.His539Asn) AND Combined oxidative phosphorylation deficiency 39
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003152799.1
Allele description [Variation Report for NM_032380.5(GFM2):c.1615C>A (p.His539Asn)]
NM_032380.5(GFM2):c.1615C>A (p.His539Asn)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024