NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) AND Combined oxidative phosphorylation defect type 20
- Germline classification:
- Conflicting interpretations of pathogenicity (5 submissions)
- Last evaluated:
- Dec 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000625984.10
Allele description [Variation Report for NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)]
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
Condition(s)
Assertion and evidence details
Last Updated: Nov 3, 2024