NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln) AND Mitochondrial complex I deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 3, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626206.4
Allele description [Variation Report for NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln)]
NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024