ClinVar Miner

Submissions for variant NM_015243.2(VPS13B):c.1559A>G (p.His520Arg) (rs143205296)

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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 RCV000426832 SCV000225382 uncertain significance not provided 2015-04-07 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239145 SCV000297277 uncertain significance not specified 2015-11-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375746 SCV000470768 uncertain significance Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000426832 SCV000511792 likely benign not provided 2016-12-09 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000375746 SCV000755419 likely benign Cohen syndrome 2017-12-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000426832 SCV000780921 uncertain significance not provided 2018-03-31 criteria provided, single submitter clinical testing

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