NM_003482.4(KMT2D):c.6089A>G (p.Asn2030Ser) AND Kabuki syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001894783.5
Assertion and evidence details
Last Updated: Mar 5, 2024