NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) AND MED12-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 3, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003985512.2
Allele description [Variation Report for NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)]
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)
Condition(s)
- Name:
- MED12-related disorder
- Synonyms:
- MED12-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Nov 10, 2024