ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) (rs139436386)

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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 RCV000081874 SCV000113809 likely benign not specified 2014-12-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388483 SCV000470865 uncertain significance Cohen syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genetic Services Laboratory,University of Chicago RCV000081874 SCV000597903 likely benign not specified 2017-05-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711289 SCV000841626 likely benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717186 SCV000848035 likely benign History of neurodevelopmental disorder 2016-10-05 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000388483 SCV001013006 likely benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing

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