NM_003482.4(KMT2D):c.2823C>T (p.Pro941=) AND Kabuki syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Mar 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003590041.1
Allele description [Variation Report for NM_003482.4(KMT2D):c.2823C>T (p.Pro941=)]
NM_003482.4(KMT2D):c.2823C>T (p.Pro941=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024