ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.1248G>T (p.Gln416His) (rs143024324)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711290 SCV000113813 uncertain significance not provided 2014-12-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081878 SCV000597873 uncertain significance not specified 2016-06-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623758 SCV000742911 uncertain significance Inborn genetic diseases 2017-10-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Invitae RCV001082583 SCV000755435 likely benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711290 SCV000841627 uncertain significance not provided 2017-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717307 SCV000848156 uncertain significance History of neurodevelopmental disorder 2018-01-30 criteria provided, single submitter clinical testing Insufficient evidence
Illumina Clinical Services Laboratory,Illumina RCV001082583 SCV001323817 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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