NM_173354.5(SIK1):c.549G>T (p.Trp183Cys) AND Developmental and epileptic encephalopathy, 30
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001065515.8
Allele description [Variation Report for NM_173354.5(SIK1):c.549G>T (p.Trp183Cys)]
NM_173354.5(SIK1):c.549G>T (p.Trp183Cys)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024