ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.631A>G (p.Met211Val)

gnomAD frequency: 0.00305  dbSNP: rs151191554
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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 RCV000653076 SCV000774950 benign DOCK2 deficiency 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980275 SCV004792512 likely benign DOCK2-related disorder 2024-02-02 no assertion criteria provided 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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