NM_015443.4(KANSL1):c.817A>G (p.Ile273Val) AND Koolen-de Vries syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002012828.5
Allele description [Variation Report for NM_015443.4(KANSL1):c.817A>G (p.Ile273Val)]
NM_015443.4(KANSL1):c.817A>G (p.Ile273Val)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024