ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) (rs61759485)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081892 SCV000113827 benign not specified 2013-04-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081892 SCV000249406 likely benign not specified 2016-11-22 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000081892 SCV000297278 likely benign not specified 2015-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000081892 SCV000512677 likely benign not specified 2017-09-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512666 SCV000609316 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing
Invitae RCV000512666 SCV000630870 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000512666 SCV000841635 likely benign not provided 2018-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718361 SCV000849223 likely benign History of neurodevelopmental disorder 2017-10-06 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)

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