NM_024996.7(GFM1):c.690_693del AND Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Feb 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002506920.3
Allele description [Variation Report for NM_024996.7(GFM1):c.690_693del]
NM_024996.7(GFM1):c.690_693del
Condition(s)
Assertion and evidence details
Last Updated: Sep 8, 2024