ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.2594G>A (p.Arg865His)

gnomAD frequency: 0.00094  dbSNP: rs199922090
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728164 SCV000855704 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000728164 SCV001073742 likely benign not provided 2025-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953294 SCV004774328 likely benign DOCK6-related disorder 2022-02-10 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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