NM_015474.4(SAMHD1):c.300G>A (p.Leu100=) AND Aicardi-Goutieres syndrome 5
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001428864.6
Allele description [Variation Report for NM_015474.4(SAMHD1):c.300G>A (p.Leu100=)]
NM_015474.4(SAMHD1):c.300G>A (p.Leu100=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024