ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.9446G>A (p.Gly3149Asp)

gnomAD frequency: 0.00320  dbSNP: rs8178208
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537686 SCV000655403 benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000609326 SCV000729569 likely benign not specified 2017-09-01 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.
Breakthrough Genomics, Breakthrough Genomics RCV004707340 SCV005223526 likely benign not provided criteria provided, single submitter not provided
Center of Medical Genetics and Primary Health Care RCV001269484 SCV001449052 benign Malignant tumor of breast no assertion criteria provided clinical testing

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