NM_003482.4(KMT2D):c.1155C>T (p.Pro385=) AND Kabuki syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000369196.8
Allele description [Variation Report for NM_003482.4(KMT2D):c.1155C>T (p.Pro385=)]
NM_003482.4(KMT2D):c.1155C>T (p.Pro385=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024