ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.2782C>T (p.Arg928Trp)

gnomAD frequency: 0.00002  dbSNP: rs200070944
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329972 SCV001521550 uncertain significance DOCK2 deficiency 2019-12-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001329972 SCV002294272 uncertain significance DOCK2 deficiency 2021-09-01 criteria provided, single submitter clinical testing

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