ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.2529C>T (p.Asn843=)

gnomAD frequency: 0.00008  dbSNP: rs576550975
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001521881 SCV001731300 benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2023-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424959 SCV002740493 likely benign Inborn genetic diseases 2022-02-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729938 SCV001977993 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729938 SCV001980651 likely benign not provided no assertion criteria provided clinical testing

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