NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala) AND Developmental and epileptic encephalopathy, 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001809443.4
Allele description [Variation Report for NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala)]
NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024