NM_000719.7(CACNA1C):c.5143C>T (p.Arg1715Trp) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002515534.2
Allele description [Variation Report for NM_000719.7(CACNA1C):c.5143C>T (p.Arg1715Trp)]
NM_000719.7(CACNA1C):c.5143C>T (p.Arg1715Trp)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
Assertion and evidence details
Last Updated: Feb 20, 2024