NM_001130438.3(SPTAN1):c.5567_5568del (p.His1856fs) AND Developmental and epileptic encephalopathy, 5
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003333522.1
Allele description [Variation Report for NM_001130438.3(SPTAN1):c.5567_5568del (p.His1856fs)]
NM_001130438.3(SPTAN1):c.5567_5568del (p.His1856fs)
Condition(s)
Assertion and evidence details
Last Updated: Oct 7, 2023