NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met) AND Immunodeficiency-centromeric instability-facial anomalies syndrome 1
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jul 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000007126.9
Allele description [Variation Report for NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met)]
NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024