ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.5980A>G (p.Ile1994Val) (rs139640224)

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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 RCV000081905 SCV000113840 benign not specified 2012-09-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081905 SCV000249414 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000081905 SCV000714721 likely benign not specified 2018-01-09 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.
Invitae RCV000634137 SCV000755433 likely benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719257 SCV000850123 uncertain significance History of neurodevelopmental disorder 2018-04-19 criteria provided, single submitter clinical testing Insufficient evidence
Illumina Clinical Services Laboratory,Illumina RCV000634137 SCV001326102 likely benign Cohen syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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