NM_006904.7(PRKDC):c.6325G>A (p.Gly2109Ser) AND Severe combined immunodeficiency due to DNA-PKcs deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000688488.5
Allele description [Variation Report for NM_006904.7(PRKDC):c.6325G>A (p.Gly2109Ser)]
NM_006904.7(PRKDC):c.6325G>A (p.Gly2109Ser)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023