ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.3212A>G (p.Asn1071Ser)

gnomAD frequency: 0.01542  dbSNP: rs8178070
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432855 SCV000527213 benign not specified 2016-05-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000544776 SCV000655375 benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712828 SCV005265540 benign not provided criteria provided, single submitter not provided

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