NM_173354.5(SIK1):c.2037G>A (p.Pro679=) AND Developmental and epileptic encephalopathy, 30
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002184264.5
Allele description [Variation Report for NM_173354.5(SIK1):c.2037G>A (p.Pro679=)]
NM_173354.5(SIK1):c.2037G>A (p.Pro679=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024