ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.2346G>A (p.Lys782=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002286136 SCV002576003 likely benign not provided 2021-06-11 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV002286136 SCV003507897 benign not provided 2023-11-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943347 SCV004763185 likely benign DOCK6-related disorder 2019-03-26 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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