NM_019066.5(MAGEL2):c.2055del (p.Trp686fs) AND Schaaf-Yang syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003147142.3
Allele description [Variation Report for NM_019066.5(MAGEL2):c.2055del (p.Trp686fs)]
NM_019066.5(MAGEL2):c.2055del (p.Trp686fs)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024