ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) (rs149842139)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717556 SCV000848409 likely benign History of neurodevelopmental disorder 2016-12-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Athena Diagnostics Inc RCV000710111 SCV000616280 likely benign not provided 2018-03-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710111 SCV000892864 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000531326 SCV000734591 likely benign Cohen syndrome no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081924 SCV000113859 benign not specified 2013-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000531326 SCV000883057 likely benign Cohen syndrome 2018-10-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081924 SCV000249428 likely benign not specified 2015-06-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000531326 SCV000743197 likely benign Cohen syndrome 2016-11-08 criteria provided, single submitter clinical testing
Invitae RCV000531326 SCV000630897 benign Cohen syndrome 2017-12-05 criteria provided, single submitter clinical testing

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