ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.4344G>A (p.Pro1448=)

gnomAD frequency: 0.00331  dbSNP: rs200307398
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625411 SCV000745265 likely benign Adams-Oliver syndrome 2 2017-11-14 criteria provided, single submitter clinical testing
Invitae RCV000906633 SCV001051283 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000906633 SCV001788294 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000906633 SCV004137826 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing DOCK6: BP4, BP7
Clinical Genetics, Academic Medical Center RCV001700277 SCV001925855 benign not specified no assertion criteria provided clinical testing

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