ClinVar Miner

Submissions for variant NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His) (rs35106300)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116412 SCV000150336 benign not specified 2013-05-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116412 SCV000202179 benign not specified 2014-02-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293026 SCV000481795 likely benign Non-syndromic X-linked intellectual disability 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000721051 SCV000851936 benign History of neurodevelopmental disorder 2015-12-29 criteria provided, single submitter clinical testing
Invitae RCV000871412 SCV001013069 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000609668 SCV000734747 likely benign Mental retardation 46, X-linked no assertion criteria provided clinical testing

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