ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) (rs187546086)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723861 SCV000203804 uncertain significance not provided 2014-04-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278329 SCV000449412 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317115 SCV000449413 uncertain significance Cranioectodermal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000154140 SCV000597943 likely benign not specified 2015-10-15 criteria provided, single submitter clinical testing
Invitae RCV000653253 SCV000775129 benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2017-09-16 criteria provided, single submitter clinical testing

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