ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.6952G>A (p.Ala2318Thr)

gnomAD frequency: 0.00001  dbSNP: rs779732085
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662054 SCV000784390 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2018-03-05 criteria provided, single submitter clinical testing

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