NM_001753.5(CAV1):c.354C>T (p.Tyr118=) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002454850.2
Allele description [Variation Report for NM_001753.5(CAV1):c.354C>T (p.Tyr118=)]
NM_001753.5(CAV1):c.354C>T (p.Tyr118=)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 1, 2024