NM_006904.7(PRKDC):c.10362A>G (p.Leu3454=) AND Severe combined immunodeficiency due to DNA-PKcs deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000924058.7
Allele description [Variation Report for NM_006904.7(PRKDC):c.10362A>G (p.Leu3454=)]
NM_006904.7(PRKDC):c.10362A>G (p.Leu3454=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024