NM_005121.3(MED13):c.3766G>T (p.Val1256Leu) AND MED13-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003421195.4
Allele description [Variation Report for NM_005121.3(MED13):c.3766G>T (p.Val1256Leu)]
NM_005121.3(MED13):c.3766G>T (p.Val1256Leu)
Condition(s)
- Name:
- MED13-related disorder
- Synonyms:
- MED13-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024