NM_003482.4(KMT2D):c.13795_13802del (p.Ala4599fs) AND Kabuki syndrome 1
- 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:
- RCV003444032.1
Allele description [Variation Report for NM_003482.4(KMT2D):c.13795_13802del (p.Ala4599fs)]
NM_003482.4(KMT2D):c.13795_13802del (p.Ala4599fs)
Condition(s)
Assertion and evidence details
Last Updated: Dec 2, 2023