NM_015443.4(KANSL1):c.3129G>A (p.Ala1043=) AND Koolen-de Vries syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001421075.6
Allele description [Variation Report for NM_015443.4(KANSL1):c.3129G>A (p.Ala1043=)]
NM_015443.4(KANSL1):c.3129G>A (p.Ala1043=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024