ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.4976G>C (p.Ser1659Thr)

gnomAD frequency: 0.00333  dbSNP: rs139644615
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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 RCV000653089 SCV000774963 benign DOCK2 deficiency 2023-12-27 criteria provided, single submitter clinical testing

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