ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.4854T>C (p.Gly1618=)

gnomAD frequency: 0.00045  dbSNP: rs2270900
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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 RCV000971706 SCV001119365 benign DOCK2 deficiency 2023-12-15 criteria provided, single submitter clinical testing

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