ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.1374A>G (p.Lys458=)

gnomAD frequency: 0.37207  dbSNP: rs2306559
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521048 SCV001730299 benign DOCK2 deficiency 2024-02-01 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487398 SCV004233294 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 56% of patients studied by a panel of primary immunodeficiencies. Number of patients: 53. Only high quality variants are reported.

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