ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.2104G>A (p.Gly702Ser)

gnomAD frequency: 0.00102  dbSNP: rs199838752
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV000662261 SCV000747182 uncertain significance Adams-Oliver syndrome 2 2017-12-01 criteria provided, single submitter research
Invitae RCV000888364 SCV001031995 benign not provided 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000888364 SCV001783555 likely benign not provided 2021-05-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000888364 SCV004137844 benign not provided 2024-01-01 criteria provided, single submitter clinical testing DOCK6: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003905676 SCV004724673 benign DOCK6-related disorder 2019-12-24 criteria provided, single submitter 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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