NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr) AND Developmental and epileptic encephalopathy, 30
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002625003.7
Allele description [Variation Report for NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)]
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024