ClinVar Miner

Submissions for variant NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr)

gnomAD frequency: 0.01182  dbSNP: rs35400360
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000429001 SCV000511326 benign not provided 2017-01-12 criteria provided, single submitter clinical testing
Invitae RCV001083925 SCV000655250 benign Developmental and epileptic encephalopathy, 23 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000429001 SCV000841863 benign not provided 2018-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000429001 SCV002000688 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001083925 SCV004178460 likely benign Developmental and epileptic encephalopathy, 23 2023-04-11 criteria provided, single submitter clinical testing

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