ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) (rs61753722)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716352 SCV000847192 benign History of neurodevelopmental disorder 2016-05-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Athena Diagnostics Inc RCV000224210 SCV000841633 benign not provided 2018-01-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224210 SCV000281243 likely benign not provided 2016-01-29 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081891 SCV000113826 benign not specified 2012-11-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081891 SCV000153487 benign not specified 2014-05-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294674 SCV000470789 likely benign Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000081891 SCV000920344 benign not specified 2017-09-18 criteria provided, single submitter clinical testing
Invitae RCV000294674 SCV000630868 benign Cohen syndrome 2017-07-24 criteria provided, single submitter clinical testing

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