ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.4895C>T (p.Ala1632Val)

gnomAD frequency: 0.02223  dbSNP: rs117328686
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001517625 SCV001726160 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001517625 SCV001949819 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000605904 SCV000733836 benign Adams-Oliver syndrome 2 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001517625 SCV001799595 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701070 SCV001918099 benign not specified no assertion criteria provided clinical testing

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