NM_015443.4(KANSL1):c.518C>T (p.Ser173Phe) AND Koolen-de Vries syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 4, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001324680.2
Allele description [Variation Report for NM_015443.4(KANSL1):c.518C>T (p.Ser173Phe)]
NM_015443.4(KANSL1):c.518C>T (p.Ser173Phe)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024