ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.1993G>A (p.Gly665Arg)

gnomAD frequency: 0.00145  dbSNP: rs17001264
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892419 SCV001036290 benign not provided 2024-10-22 criteria provided, single submitter clinical testing
GeneDx RCV000892419 SCV001872972 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957969 SCV004770548 likely benign DOCK6-related disorder 2021-10-06 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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