ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.3456C>G (p.Leu1152=)

gnomAD frequency: 0.40563  dbSNP: rs9791113
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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 RCV001511715 SCV001719005 benign DOCK2 deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001511715 SCV001875673 benign DOCK2 deficiency 2021-07-30 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487326 SCV004233202 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 63% of patients studied by a panel of primary immunodeficiencies. Number of patients: 60. Only high quality variants are reported.
GenomeConnect, ClinGen RCV001824972 SCV002074614 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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