NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys) AND Childhood epilepsy with centrotemporal spikes
- Germline classification:
- no classifications from unflagged records (1 submission)
- Last evaluated:
- Sep 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000656022.2
Allele description [Variation Report for NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys)]
NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys)
Condition(s)
Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000588298 | Bioinformatics Core, Luxembourg Center for Systems Biomedicine - EUROEPINOMICS COGIE | flagged submission Reason: Claim with insufficient supporting evidence Notes: None | Pathogenic (Jan 1, 2017) | germline | case-control |
Last Updated: Feb 28, 2024