ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.979+6G>A

gnomAD frequency: 0.00051  dbSNP: rs200237259
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000966457 SCV001113781 benign DOCK2 deficiency 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960778 SCV004777609 likely benign DOCK2-related condition 2019-12-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729763 SCV001978125 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729762 SCV001980658 likely benign not provided no assertion criteria provided clinical testing

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