NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 8, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003318351.2
Allele description [Variation Report for NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)]
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
Assertion and evidence details
Last Updated: Sep 29, 2024