NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln) AND ALDH18A1-related de Barsy syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 20, 2012
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000196978.1
Assertion and evidence details
Last Updated: Apr 27, 2022