ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.3752G>A (p.Arg1251Gln)

gnomAD frequency: 0.00245  dbSNP: rs200390354
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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 RCV000889821 SCV001033528 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000889821 SCV002498935 uncertain significance not provided 2022-04-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003910558 SCV004719748 benign DOCK6-related disorder 2020-01-14 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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