ClinVar Miner

Submissions for variant NM_001367561.1(DOCK7):c.5101C>T (p.Arg1701Ter)

gnomAD frequency: 0.00001  dbSNP: rs1419019482
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991357 SCV001142749 likely pathogenic Developmental and epileptic encephalopathy, 23 2019-06-20 criteria provided, single submitter clinical testing

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