NM_006904.7(PRKDC):c.12150G>A (p.Lys4050=) AND Severe combined immunodeficiency due to DNA-PKcs deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003847962.1
Allele description [Variation Report for NM_006904.7(PRKDC):c.12150G>A (p.Lys4050=)]
NM_006904.7(PRKDC):c.12150G>A (p.Lys4050=)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024