NM_194454.3(KRIT1):c.1553T>C (p.Val518Ala) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002548896.2
Allele description [Variation Report for NM_194454.3(KRIT1):c.1553T>C (p.Val518Ala)]
NM_194454.3(KRIT1):c.1553T>C (p.Val518Ala)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 1, 2024