ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.3828G>C (p.Leu1276=)

gnomAD frequency: 0.09317  dbSNP: rs6555882
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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 RCV000551340 SCV000656400 benign DOCK2 deficiency 2024-01-29 criteria provided, single submitter clinical testing

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