ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.1623+6A>G

gnomAD frequency: 0.96352  dbSNP: rs1231202
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434781 SCV000516290 benign not specified 2015-10-20 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 RCV001518421 SCV001727108 benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001518421 SCV002031868 benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-10-25 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000434781 SCV004233277 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 100% of patients studied by a panel of primary immunodeficiencies. Number of patients: 95. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001824760 SCV005265547 benign not provided criteria provided, single submitter not provided
GenomeConnect, ClinGen RCV001824760 SCV002074735 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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