NM_001197104.2(KMT2A):c.9519_9520del (p.Gln3173_Ser3174insTer) AND Wiedemann-Steiner syndrome
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002274365.2
Allele description [Variation Report for NM_001197104.2(KMT2A):c.9519_9520del (p.Gln3173_Ser3174insTer)]
NM_001197104.2(KMT2A):c.9519_9520del (p.Gln3173_Ser3174insTer)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024