ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) (rs61729366)

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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 RCV000179644 SCV000231924 benign not specified 2015-01-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315339 SCV000451296 uncertain significance Cryptophthalmos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000179644 SCV000594881 likely benign not specified 2016-09-14 criteria provided, single submitter clinical testing
Invitae RCV000872220 SCV001014005 benign not provided 2019-02-07 criteria provided, single submitter clinical testing
Daryl Scott Lab,Baylor College of Medicine RCV000577951 SCV000484668 risk factor Congenital diaphragmatic hernia 2016-11-09 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000315339 SCV000734360 likely benign Cryptophthalmos syndrome no assertion criteria provided clinical testing

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