ClinVar Miner

Submissions for variant NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) (rs145644275)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081097 SCV000113005 benign not specified 2013-10-29 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514781 SCV000610719 likely benign not provided 2017-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716931 SCV000847776 benign History of neurodevelopmental disorder 2016-09-07 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000514781 SCV001013449 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000608756 SCV001141887 likely benign Aarskog syndrome 2019-05-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608756 SCV000734790 likely benign Aarskog syndrome no assertion criteria provided clinical testing

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