NM_019066.5(MAGEL2):c.1597del (p.Ala533fs) AND Schaaf-Yang syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002465451.1
Allele description [Variation Report for NM_019066.5(MAGEL2):c.1597del (p.Ala533fs)]
NM_019066.5(MAGEL2):c.1597del (p.Ala533fs)
Condition(s)
Assertion and evidence details
Last Updated: Jul 29, 2023