ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.5484G>A (p.Thr1828=)

gnomAD frequency: 0.00095  dbSNP: rs140198889
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000974794 SCV001122660 benign DOCK2 deficiency 2024-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726402 SCV001961922 likely benign not provided 2021-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918573 SCV004732861 likely benign DOCK2-related condition 2020-02-07 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).

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