ClinVar Miner

Submissions for variant NM_001367561.1(DOCK7):c.4283-4A>G

gnomAD frequency: 0.03743  dbSNP: rs17123688
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541125 SCV000655263 benign Developmental and epileptic encephalopathy, 23 2025-02-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711496 SCV000841866 benign not provided 2017-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000711496 SCV001828856 benign not provided 2021-03-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000541125 SCV004172367 benign Developmental and epileptic encephalopathy, 23 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711496 SCV005287240 benign not provided criteria provided, single submitter not provided

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