NM_003482.4(KMT2D):c.2174T>A (p.Leu725Gln) AND Kabuki syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003826168.1
Allele description [Variation Report for NM_003482.4(KMT2D):c.2174T>A (p.Leu725Gln)]
NM_003482.4(KMT2D):c.2174T>A (p.Leu725Gln)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024