NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr) AND Aicardi-Goutieres syndrome 4
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jan 27, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000967301.17
Allele description [Variation Report for NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr)]
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024