ClinVar Miner

Submissions for variant NM_001367561.1(DOCK7):c.1047C>T (p.Val349=)

gnomAD frequency: 0.00290  dbSNP: rs139793443
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083514 SCV000655237 benign Developmental and epileptic encephalopathy, 23 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000536174 SCV001143779 benign not provided 2019-04-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000536174 SCV001371264 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing DOCK7: BP4, BP7, BS2
GeneDx RCV000536174 SCV001983968 likely benign not provided 2021-04-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001083514 SCV004178497 benign Developmental and epileptic encephalopathy, 23 2023-04-11 criteria provided, single submitter clinical testing

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