ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.1215C>T (p.Thr405=)

gnomAD frequency: 0.00032  dbSNP: rs141406325
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653081 SCV000774955 likely benign DOCK2 deficiency 2023-12-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432710 SCV004158009 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing DOCK2: BP4, BP7

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