ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.1062A>G (p.Thr354=)

gnomAD frequency: 0.00055  dbSNP: rs143288655
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000899310 SCV001043568 benign DOCK2 deficiency 2023-06-09 criteria provided, single submitter clinical testing

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