NM_015474.4(SAMHD1):c.546G>A (p.Leu182=) AND Aicardi-Goutieres syndrome 5
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001217143.5
Assertion and evidence details
Last Updated: Aug 4, 2024