NM_003482.4(KMT2D):c.2289G>C (p.Pro763=) AND Kabuki syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003837050.1
Allele description [Variation Report for NM_003482.4(KMT2D):c.2289G>C (p.Pro763=)]
NM_003482.4(KMT2D):c.2289G>C (p.Pro763=)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024