NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) AND Tuberous sclerosis and lymphangiomyomatosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 1, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000148917.11
Allele description [Variation Report for NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)]
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
Condition(s)
- Name:
- Tuberous sclerosis and lymphangiomyomatosis
- Identifiers:
- MedGen: CN221561
Assertion and evidence details
Last Updated: Jun 9, 2024