NM_016335.6(PRODH):c.650G>A (p.Arg217His) AND Proline dehydrogenase deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000660373.13
Allele description [Variation Report for NM_016335.6(PRODH):c.650G>A (p.Arg217His)]
NM_016335.6(PRODH):c.650G>A (p.Arg217His)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024