NM_001197104.2(KMT2A):c.4422G>A (p.Trp1474Ter) AND Wiedemann-Steiner syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002810035.2
Allele description [Variation Report for NM_001197104.2(KMT2A):c.4422G>A (p.Trp1474Ter)]
NM_001197104.2(KMT2A):c.4422G>A (p.Trp1474Ter)
Condition(s)
Assertion and evidence details
Last Updated: Mar 30, 2024