ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.5445G>A (p.Ser1815=)

gnomAD frequency: 0.00090  dbSNP: rs200128185
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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 RCV000653088 SCV000774962 benign DOCK2 deficiency 2023-12-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905779 SCV004726674 benign DOCK2-related disorder 2019-06-27 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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