ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.7787C>T (p.Ser2596Phe) (rs145208175)

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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 RCV000724114 SCV000230597 uncertain significance not provided 2017-01-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000194337 SCV000249421 uncertain significance not specified 2014-04-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283654 SCV000470826 uncertain significance Cohen syndrome 2018-01-12 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.
Fulgent Genetics,Fulgent Genetics RCV000283654 SCV000611532 uncertain significance Cohen syndrome 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000283654 SCV000630888 likely benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719531 SCV000850399 uncertain significance History of neurodevelopmental disorder 2018-11-16 criteria provided, single submitter clinical testing Insufficient evidence

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