NM_019066.5(MAGEL2):c.1249C>T (p.Arg417Cys) AND MAGEL2-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003420426.4
Allele description [Variation Report for NM_019066.5(MAGEL2):c.1249C>T (p.Arg417Cys)]
NM_019066.5(MAGEL2):c.1249C>T (p.Arg417Cys)
Condition(s)
- Name:
- MAGEL2-related disorder
- Synonyms:
- MAGEL2-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024