NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002413379.3
Allele description [Variation Report for NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His)]
NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Sep 29, 2024