ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.5832+5G>A

gnomAD frequency: 0.00019  dbSNP: rs181867999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758219 SCV001985798 uncertain significance not provided 2019-03-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
PreventionGenetics, part of Exact Sciences RCV003900859 SCV004711248 likely benign DOCK6-related disorder 2019-06-13 criteria provided, single submitter 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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